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• W2000762735 abstract "Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25–10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease, genitourinary anomalies, digital anomalies, and strabismus. We report for the first time a patient with de novo 10q interstitial deletion del (10)(q26.1q26.3) and cataract. Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25–10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease, genitourinary anomalies, digital anomalies, and strabismus. We report for the first time a patient with de novo 10q interstitial deletion del (10)(q26.1q26.3) and cataract. Patients with terminal deletion of the long arm of chromosome 10 present with phenotypic manifestations, including facial dysmorphisms, postnatal growth retardation, developmental delay, mental retardation, digital anomalies, cardiac defects, and genitourinary defects.1Irving M. Hanson H. Turnpenny P. Brewer C. Ogilvie C.M. Davies A. et al.Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases.Am J Med Genet A. 2003; 123A: 153-163Crossref PubMed Scopus (55) Google Scholar, 2Scigliano S. Grégoire M.J. Schmitt M. Jonveaux P.H. LeHeup B. Terminal deletion of the long arm of chromosome 10.Clin Genet. 2004; 65: 294-298Crossref PubMed Scopus (30) Google Scholar It is an uncommon chromosomal disorder, with most terminal deletions starting at breakpoints in bands 10q25 or 10q26. In contrast to these terminal deletions, interstitial deletions within bands 10q25–10q26.3 are extremely rare and only seven cases have been reported.3Rooney D.E. Williams K. Coleman D.V. Habel A. A case of interstitial deletion of 10q25.2–q26.1.J Med Genet. 1989; 26: 58-60Crossref PubMed Scopus (17) Google Scholar However, it is unknown whether the phenotypes are different from terminal deletions. Here, we report the first reported case with a de novo 10q interstitial deletion, del (10)(q26.1q26.3). In addition to many of the phenotypic anomalies previously described in interstitial 10q cases, our patient presented with cataracts. It is estimated that there are 1.5 million blind children in the world.4World Health Organization Prevention of childhood blindness. World Health Organization, Geneva1992Google Scholar Cataract is the main cause of treatable blindness in children. Information on the ocular and systemic characteristics of pediatric cataract syndromes is useful for further systemic screening needs and genetic evaluation. The patient, a 10.5-year-old girl, is the first child of healthy, unrelated parents. She was born spontaneously at 36 weeks with uncomplicated pregnancy. Her birth body weight was 2.25 kg (25th percentile). She had a triangular and asymmetric face, prominent nasal bridge, hypertelorism, malformed ears, right ear skin tag, simian crease, and bilateral clinodactyly (Figure 1A and B). Congenital heart disease with ventricular septal defect, patent ductus arteriosus, and severe pulmonary artery hypertension was found soon after birth. Total surgical repair was performed at 7 months. Evoked-response audiometry revealed a left sensorineural hearing impairment (hearing loss: left: 65 dB). Development has shown a global delay. She first sat at 14 months, crawled at 20 months, stood at 24 months, and began walking alone at 29 months of age. Her first meaningful words were spoken at 5 years of age and speech delay has been noted since, limited to a few words. Furthermore, verbal comprehension is limited to common verbal instructions. Growth delay was also noted at 6 months old, her height was 54.8 cm (<3rd percentile) and her weight was 3.8 kg (<3rd percentile). Global development assessment at 8 years and 10 months showed a developmental quotient (DQ) of 36. Cranio-cerebral magnetic resonance imaging (MRI) was normal. Renal sonography revealed bilateral kidney hypotrophy with no other urogenital defects. The patient is now 10 years and 5 months old. Her height is 103.5 cm (<3rd percentile) and her weight is 14.5 kg (<3rd percentile). Eye examination revealed a cataract on the left side at 7 years of age, which was the reason for the first visit to our hospital. The left retina was normal and there was no strabismus. Chromosome preparation of peripheral white blood cells was performed, and trypsin-banding Giemsa was applied at 550 band resolution. G-banding analysis revealed that the patient had a karyotype of 46, xx, del (10) (q26.1q26.3) (Figure 2). In order to rule out familial translocation, parental blood samples were also analyzed and found to be normal. These results indicated that the chromosomal aberration was de novo in origin. An additional study with fluorescence in situ hybridization (FISH) was performed (Figure 3). A single whole-chromosome painting probe specific for chromosome 10 (CPMC-GM10926) was employed to further rule out microtranslocation. The FISH result clearly showed that both the normal chromosome 10 and the deleted chromosome 10 were painted and no other painting signal was detected in other chromosomes, indicating that no other chromosome was involved. Further FISH studies were performed to delineate the 10q26 terminal deletion. A ToTelVysis # 10 subtelomeric probe set (spectrumgreen labeled 10pt, spectrumorange labeled 10qt, and spectrumgreen and spectrumorange labeled 15qt) and biotinylated telomere (TTAGGG)n probe were used to study the 10q26 terminal deletion.Figure 3De novo 10q26.1–q26.3 deletion with no microtranslocation. Fluorescence in situ hybridization with a single whole-chromosome painting probe specific for chromosome 10 demonstrated the deletion.View Large Image Figure ViewerDownload Hi-res image Download (PPT) The FISH result of the ToTelVysis # 10 subtelomeric probe set showed that the 10qt subtelomeric probe (green signal) was only presented on one 10qt of chromosome 10 homologs in 50 examined metaphase cells (Figure 4A). The FISH result of the biotinylated telomere (TTAGGG)n probe revealed that all telomeric regions had FISH signals (red signal) in the 56 metaphase cells examined (Figure 4B). Therefore, the FISH results suggested that this patient had a 10q terminal deletion from 10q26.1 to the subtelomeric region, while the universal telomeric sequences existed on the terminal of del(10q) to stabilize the chromosome end of del(10q). Therefore, we considered that the deletion was interstitial with the karyotype of the patient, designated as 46,XX, del(10)(q26.1q26.3).5Furuya T. Morgan R. Berger C.S. Sandberg A.A. Presence of telomeric sequences on deleted chromosomes and their absence on double minutes in cell line HL-60.Cancer Genet Cytogenet. 1993; 70: 132-135Abstract Full Text PDF PubMed Scopus (10) Google Scholar The existence of a 10q-syndrome was suggested previously by Wulfsberg et al,6Wulfsberg E.A. Weaver R.P. Cunniff C.M. Jones M.C. Jones K.L. Chromosome 10qter deletion syndrome: a review and report of three new cases.Am J Med Genet. 1989; 32: 364-367Crossref PubMed Scopus (67) Google Scholar who reviewed 18 cases of terminal 10q deletions. Despite the variation of symptoms, some features are consistently seen, such as facial dysmorphisms characterized by a broad nasal bridge with beaked or prominent noses, strabismus, malformed and low-set ears, hypertelorism and facial asymmetry. Other common features are growth retardation, psychomotor delay, learning disabilities, cryptorchidism in males, genital defects, and digital anomalies such as clinodactly and syndactly. The majority of distal 10q deletions include the terminal region, and reports of patients with interstitial deletions involving band 10q25–q26.3 are rare. De novo interstitial deletions of 10q are very rare with only a few reported cases. To date, only seven patients have been described with interstitial deletions involving band 10q25 and/or q26.3.1Irving M. Hanson H. Turnpenny P. Brewer C. Ogilvie C.M. Davies A. et al.Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases.Am J Med Genet A. 2003; 123A: 153-163Crossref PubMed Scopus (55) Google Scholar, 3Rooney D.E. Williams K. Coleman D.V. Habel A. A case of interstitial deletion of 10q25.2–q26.1.J Med Genet. 1989; 26: 58-60Crossref PubMed Scopus (17) Google Scholar, 7McCandless S.E. Schwartz S. Morrison S. Garlapati K. Robin N.H. Adult with an interstitial deletion of chromosome 10 [del(10)(q25. 1q25.3)]: overlap with Coffin-Lowry syndrome.Am J Med Genet. 2000; 95: 93-98Crossref PubMed Scopus (19) Google Scholar, 8Kehrer-Sawatzki H. Daumiller E. Müller-Navia J. Kendziorra H. Rossier E. du Bois G. et al.Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)—case report and review of the literature.Prenat Diagn. 2005; 25: 954-959Crossref PubMed Scopus (12) Google Scholar A summary of the clinical features of 35 previously reported del 10q26 cases is presented in Table 1 with comparison to our case observations.2Scigliano S. Grégoire M.J. Schmitt M. Jonveaux P.H. LeHeup B. Terminal deletion of the long arm of chromosome 10.Clin Genet. 2004; 65: 294-298Crossref PubMed Scopus (30) Google Scholar, 6Wulfsberg E.A. Weaver R.P. Cunniff C.M. Jones M.C. Jones K.L. Chromosome 10qter deletion syndrome: a review and report of three new cases.Am J Med Genet. 1989; 32: 364-367Crossref PubMed Scopus (67) Google Scholar, 9Schrander-Stumpel C. Fryns J.P. Hamers G. The partial monosomy 10q syndrome: report on two patients and review of the developmental data.J Ment Defic Res. 1991; 35: 259-267PubMed Google Scholar, 10Waggoner D.J. Chow C.K. Dowton S.B. Watson M.S. Partial monosomy of distal 10q: three new cases and a review.Am J Med Genet. 1999; 86: 1-5Crossref PubMed Scopus (48) Google Scholar, 11Turleau C. de Grouchy J. Ponsot G. Bouygues D. Monosomy 10qter.Hum Genet. 1979; 47: 233-237Crossref PubMed Scopus (35) Google Scholar, 12Taysi K. Strauss A.W. Yang V. Padmalatha C. Marshall R.E. Terminal deletion of the long arm of chromosome 10: q26 to qter. case report and review of literature.Ann Genet. 1982; 25: 141-144PubMed Google Scholar, 13Evans-Jones G. Walker S. Howard P.J. A further case of monosomy 10qter.Clin Genet. 1983; 24: 216-219Crossref PubMed Scopus (28) Google Scholar, 14Zatterale A. Pagano L. Fioretti G. Caniglia M. Festa B. Renda S. et al.Clinical features of monosomy 10qter.Ann Genet. 1983; 26: 106-108PubMed Google Scholar, 15Shapiro S.D. Hansen K.L. Pasztor L.M. DiLiberti J.H. Jorgenson R.J. Young R.S. et al.Deletions of the long arm of chromosome 10.Am J Med Genet. 1985; 20: 181-196Crossref PubMed Scopus (55) Google Scholar, 16Teyssier M. Charrin C. Dutruge J. Rousselle C. Monosomy 10qter: a new case.J Med Genet. 1992; 29: 342-343Crossref PubMed Scopus (15) Google Scholar, 17Wilkie A.O. Campbell F.M. Daubeney P. Grant D.B. Daniels R.J. Mullarkey M. et al.Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review.Am J Med Genet. 1993; 46: 597-600Crossref PubMed Scopus (134) Google Scholar, 18Petit P. Devriendt K. Azou M. Gewillig M. Fryns J.P. Terminal deletion of chromosome 10q26: delineation of two clinical phenotypes.Genet Couns. 1998; 9: 271-275PubMed Google Scholar, 19Tanabe S. Akiba T. Katoh M. Satoh T. Terminal deletion of chromosome 10q: clinical features and literature review.Pediatr Int. 1999; 41: 565-567Crossref PubMed Scopus (20) Google Scholar, 20Leonard N.J. Harley F.L. Lin C.C. Terminal deletion of chromosome 10q at band 26.1: follow-up in an adolescent male with high-output renal failure from congenital obstructive uropathy.Am J Med Genet. 1999; 86: 115-117Crossref PubMed Scopus (21) Google Scholar, 21Lukusa T. Smeets E. Vermeesch J.R. Fryns J.P. Small terminal 10q26 deletion in a male patient with Noonan-like stigmata: diagnosis by cytogenetic and FISH analysis.Genet Couns. 2002; 13: 417-425PubMed Google Scholar Clinical manifestations of patients with interstitial deletions involving chromosome bands 10q25.2–10q26.3 are also summarized in Table 1.Table 1Clinical features present with interstitial deletions.del (10)q26 except interstitial type∗Summary of the clinical features in 35 previously published cases of del 10q26.2,6,19,26 (%)Interstitial deletion 10q25.2-10q26.3†Clinical features of seven patients with interstitial deletions involving chromosome bands 10q25.2-10q26.3. (%)Our caseLow birth weight <3%8/32‡Features scored only for patients where specific information was available. (25%)2/7 (29%)+Short stature (<3rd percentile)22/33‡Features scored only for patients where specific information was available. (67%)2/7 (29%)+Psychomotor retardation30/34‡Features scored only for patients where specific information was available. (88%)5/7 (71%)+Asymmetric face17/31‡Features scored only for patients where specific information was available. (55%)1/7 (14%)+Hypertelorism11/30‡Features scored only for patients where specific information was available. (37%)5/7 (71%)+Cataract0/35 (0%)0/7 (0%)+Strabismus18/27‡Features scored only for patients where specific information was available. (67%)2/7 (29%)—Downward slanting palpebral fissures5/28‡Features scored only for patients where specific information was available. (18%)2/7 (29%)—Prominent nose, broad nasal bridge26/34‡Features scored only for patients where specific information was available. (76%)6/7 (86%)+Large, malformed, low-set ears21/32‡Features scored only for patients where specific information was available. (66%)4/7 (57%)Right ear skin tagGenital defect11/27‡Features scored only for patients where specific information was available. (41%)2/7 (29%)—Cryptorchidism10/14 males (71%)1/2 males (50%)—Urinary tract anomaly7/35 (20%)0/7 (0%)Small kidneyCongenital heart disease9/35 (26%)1/7 (14%)+Sensorineural hearing loss1/19‡Features scored only for patients where specific information was available. (5%)2/7 (29%)+(Left)Joint abnormality15/35 (43%)3/7 (43%)+Syndactyly (2nd and 3rd toe or 4th and 5th toe)6/30‡Features scored only for patients where specific information was available. (20%)1/7 (14%)—Clinodactyly10/21‡Features scored only for patients where specific information was available. (48%)2/7 (29%)+Simian crease3/35 (9%)0/7 (0%)+∗ Summary of the clinical features in 35 previously published cases of del 10q26.2Scigliano S. Grégoire M.J. Schmitt M. Jonveaux P.H. LeHeup B. Terminal deletion of the long arm of chromosome 10.Clin Genet. 2004; 65: 294-298Crossref PubMed Scopus (30) Google Scholar, 6Wulfsberg E.A. Weaver R.P. Cunniff C.M. Jones M.C. Jones K.L. Chromosome 10qter deletion syndrome: a review and report of three new cases.Am J Med Genet. 1989; 32: 364-367Crossref PubMed Scopus (67) Google Scholar, 19Tanabe S. Akiba T. Katoh M. Satoh T. Terminal deletion of chromosome 10q: clinical features and literature review.Pediatr Int. 1999; 41: 565-567Crossref PubMed Scopus (20) Google Scholar, 26Schell U. Hehr A. Feldman G.J. Robin N.H. Zackai E.H. de Die-Smulders C. et al.Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.Hum Mol Genet. 1995; 4: 323-328Crossref PubMed Scopus (203) Google Scholar† Clinical features of seven patients with interstitial deletions involving chromosome bands 10q25.2-10q26.3.‡ Features scored only for patients where specific information was available. Open table in a new tab Some, but not all, clinical features frequently associated with terminal 10q have also been reported in patients with interstitial deletions. Psychomotor delay, speech delay, motor delay, and learning disabilities were noted in cases with deletions near 10q26 (30/34 cases or 88%) and with interstitial deletions (5/7 or 71%). In our case, developmental assessment at 8 years and 10 months revealed a moderate delay (DQ of 36). Global delay was noted in both groups. Growth retardation was noted in our case, as the patient's height and weight were <3rd percentile. Other manifestations, such as prominent nose, broad nasal bridge, large or malformed ears, cryptorchidism, and joint abnormalities were also noted in both interstitial and terminal deletion groups. Facial asymmetry, strabismus, and sensorineural hearing loss were different, however (Table 1). Facial asymmetry was seen in only two cases (including ours) associated with interstitial deletion, although the number of 10q cases is limited. Patients with 10q deletions at a break site near 10q25 appear to have a higher frequency of severe congenital hearing anomalies, anogenital anomalies, and urinary tract anomalies, than those with a break site at 10q26.2Scigliano S. Grégoire M.J. Schmitt M. Jonveaux P.H. LeHeup B. Terminal deletion of the long arm of chromosome 10.Clin Genet. 2004; 65: 294-298Crossref PubMed Scopus (30) Google Scholar, 10Waggoner D.J. Chow C.K. Dowton S.B. Watson M.S. Partial monosomy of distal 10q: three new cases and a review.Am J Med Genet. 1999; 86: 1-5Crossref PubMed Scopus (48) Google Scholar Waggoner et al10Waggoner D.J. Chow C.K. Dowton S.B. Watson M.S. Partial monosomy of distal 10q: three new cases and a review.Am J Med Genet. 1999; 86: 1-5Crossref PubMed Scopus (48) Google Scholar concluded that in patients with break sites at 10q25, 71% (5 out of 7) had congenital hearing disease (CHD).10Waggoner D.J. Chow C.K. Dowton S.B. Watson M.S. Partial monosomy of distal 10q: three new cases and a review.Am J Med Genet. 1999; 86: 1-5Crossref PubMed Scopus (48) Google Scholar Some patients with terminal deletion of chromosome 10q were found to suffer from sex reversal or ambiguous genitalia.6Wulfsberg E.A. Weaver R.P. Cunniff C.M. Jones M.C. Jones K.L. Chromosome 10qter deletion syndrome: a review and report of three new cases.Am J Med Genet. 1989; 32: 364-367Crossref PubMed Scopus (67) Google Scholar, 17Wilkie A.O. Campbell F.M. Daubeney P. Grant D.B. Daniels R.J. Mullarkey M. et al.Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review.Am J Med Genet. 1993; 46: 597-600Crossref PubMed Scopus (134) Google Scholar Cryptorchidism has been reported in male patients, in addition to genital anomalies such as small scrotum and penis,14Zatterale A. Pagano L. Fioretti G. Caniglia M. Festa B. Renda S. et al.Clinical features of monosomy 10qter.Ann Genet. 1983; 26: 106-108PubMed Google Scholar, 15Shapiro S.D. Hansen K.L. Pasztor L.M. DiLiberti J.H. Jorgenson R.J. Young R.S. et al.Deletions of the long arm of chromosome 10.Am J Med Genet. 1985; 20: 181-196Crossref PubMed Scopus (55) Google Scholar, 22Mulcahy M.T. Pemberton P.J. Thompson E. Watson M. Is there a monosomy 10qter syndrome?.Clin Genet. 1982; 21: 33-35Crossref PubMed Scopus (31) Google Scholar, 23Fryns J.P. Kleczkowska A. Fivez H. Van den Berghe H. Severe midline fusion defects in a newborn with 10q26—qter deletion.Ann Genet. 1989; 32: 124-125PubMed Google Scholar while females present with hypoplastic external genitalia.9Schrander-Stumpel C. Fryns J.P. Hamers G. The partial monosomy 10q syndrome: report on two patients and review of the developmental data.J Ment Defic Res. 1991; 35: 259-267PubMed Google Scholar, 24Curtis H. Howell R.T. Cope C. Terminal deletion of the long arm of chromosome 10.J Med Genet. 1986; 23: 478-480Crossref PubMed Scopus (16) Google Scholar However, there was no external genital anomaly in our case. Strabismus was observed in 18 out of 27 terminal deletion cases (67%), but our patient presented with a cataract on the left side without strabismus. Several defects had been reported to be associated with gene mutations/deletions within 10q, such as ectrodactyly (split hand/split foot malformation) at locus 10q24–10q25.25Nunes M.E. Schutt G. Kapur R.P. Luthardt F. Kukolich M. Byers P. et al.A second autosomal split hand/split foot locus maps to chromosome 10q24-q25.Hum Mol Genet. 1995; 4: 2165-2170Crossref PubMed Scopus (74) Google Scholar In addition, multiple mutations in the fibroblast growth factor receptor 2 gene (also in this region) have been associated with craniosynostosis syndromes.26Schell U. Hehr A. Feldman G.J. Robin N.H. Zackai E.H. de Die-Smulders C. et al.Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome.Hum Mol Genet. 1995; 4: 323-328Crossref PubMed Scopus (203) Google Scholar, 27Reardon W. Winter R.M. Rutland P. Pulleyn L.J. Jones B.M. Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.Nat Genet. 1994; 8: 98-103Crossref PubMed Scopus (617) Google Scholar A multiple gene locus study of 10q reported multiple defects. For example, the ADRB1 gene encoding the β1 adrenergic receptor may be associated with cardiac defects.8Kehrer-Sawatzki H. Daumiller E. Müller-Navia J. Kendziorra H. Rossier E. du Bois G. et al.Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)—case report and review of the literature.Prenat Diagn. 2005; 25: 954-959Crossref PubMed Scopus (12) Google Scholar The β-tectorin gene, together with α-tectorin gene, encodes the major noncollagenous proteins of the tectorial membrane of the cochlea. Three of the patients, including our case, with interstitial 10q25–26.1 deletions had temporary sensorineural and mild hearing loss (Table 1),1Irving M. Hanson H. Turnpenny P. Brewer C. Ogilvie C.M. Davies A. et al.Deletion of the distal long arm of chromosome 10; is there a characteristic phenotype? A report of 15 de novo and familial cases.Am J Med Genet A. 2003; 123A: 153-163Crossref PubMed Scopus (55) Google Scholar which might be associated with β-tectorin haplo insufficiency. Deletions of ADRA2A, the gene encoding the α2A adrenergic receptor, might be related to learning disabilities.8Kehrer-Sawatzki H. Daumiller E. Müller-Navia J. Kendziorra H. Rossier E. du Bois G. et al.Interstitial deletion del(10)(q25.2q25.3 approximately 26.11)—case report and review of the literature.Prenat Diagn. 2005; 25: 954-959Crossref PubMed Scopus (12) Google Scholar Curiously, however, cataracts have never been reported in 10q deletion cases. In children with cataracts, the etiology may be inherited, stem from a metabolic disease, or be associated with systemic abnormalities, but in most cases, the etiology is unclear. In older children, cataracts are often related to injuries or ocular inflammation related to juvenile rheumatoid arthritis. However, in our case, there was no trauma history or ocular inflammatory disease. There was also no metabolic disease in our patient. There are many systemic disorders including inherited diseases which are associated with pediatric cataract, including abnormal gene locus at 10q.28Trumler A.A. Evaluation of pediatric cataracts and systemic disorders.Curr Opin Ophthalmol. 2011; 22: 365-379Crossref PubMed Scopus (37) Google Scholar, 29Narahara K. Baker E. Ito S. Yokoyama Y. Yu S. Hewitt D. et al.Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.J Med Genet. 1997; 34: 213-216Crossref PubMed Scopus (50) Google Scholar In 1997, Narahara et al29Narahara K. Baker E. Ito S. Yokoyama Y. Yu S. Hewitt D. et al.Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.J Med Genet. 1997; 34: 213-216Crossref PubMed Scopus (50) Google Scholar reported that the PAX2 gene associated with optic nerve coloboma-renal disease was linked to 10q25.2, suggesting that the PAX2 gene may play a role in the observed optic defects (such as strabismus or cataract).29Narahara K. Baker E. Ito S. Yokoyama Y. Yu S. Hewitt D. et al.Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease.J Med Genet. 1997; 34: 213-216Crossref PubMed Scopus (50) Google Scholar However, further studies into the genetic role of 10q deletion in the pathogenesis are warranted. Owing to the small number of patients with interstitial deletions, it is not possible to assess the phenotypic overlap with terminal deletion cases with any certainty. Further investigations are necessary, including molecular cytogenetic determination of the deletion size using BAC clones to elucidate whether the clinical manifestation of interstitial deletions 10(q25.2–q26.3) are associated with the extent of the deletion and whether the phenotypic manifestations differ between interstitial and terminal deletions. Concerning the study limitations, we still cannot exclude the possibility of there being no causal relationship between the cataract and the 10q deletion. Based on this observation, however, we suggest that evaluation of eye status is still required for any individuals with this genetic condition. It is also important for systemic evaluation and genetic counseling to be undertaken in children with a cataract. The study was supported by China Medical University and Hospital (grant number DMR-100-047). The authors have no financial disclosure to make in relation to this manuscript." @default.
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• W2000762735 title "Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract" @default.
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