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• W7119894 abstract "Summary: Can the classical euchromatic variants of 9q12/qh+ cause recurrent abortions?: Various heteromorphisms of the 9q heterochromatic area have been reported, and the 9q12/qh variant has been postulated to be more prevalent than initially perceived. Of note is that all probands are clinically normal. This paper documents two cases with a G-band within the 9q12h region and recurrent miscarriages. Patient 1 is a 22-year-old woman with a history of 2 miscarriages. Patient 2 is a 19-year-old woman with a history of 3 miscarriages. Chromosome analysis of the patients showed 46,XX,9q12h+. Thus, the existence of a G+ band in 9qh may not be a normal variant in humans. We suggest IVF and preimplantation genetic diagnosis in such patients. Key-words: Euchromatic variants - Genetic counseling - Recurrent abortion. INTRODUCTION Human chromosome 9 is characterized by high degree of morphologic variations (31). These variants, termed heteromorphisms include changes in the size of long arm heterochromatin, pericentric inversions, and more rarely, additional C-band negative and G-band positive material in either the proximal short arm or long arm or within heterochromatin (30). Structural abnormalities involving or in association with the heterochromatic regions are difficult to characterize and hence have gone undetected by conventional cytogenetic methods. Morphological variation of the secondary constriction (qh) region of human chromosome 9, because of heterochromatic DNA, is the norm (31). The qh region of chromosome 9 comprises major tandem repeat sequences of the satellite-Ill DNA family that are TaqI deficient and that are the major source of heteromorphisms (4, 13). There are many cases where an additional G-positive (euchromatic) band of unknown origin has been reported within the qh region of chromosome 9. The inheritance in these cases has been familial and therefore referred to as a rare variant whose pathogenetic nature remains obscure (3, 5, 8, 10, 14, 16, 18, 22, 23, 28, 33). We present a case where an extra G-positive band within the 9qh region was familial and could easily be referred to as an abnormality, while earlier familial cases have been termed variants. This is the first report in which clinical findings were unexpectedly observed in association with such a familial extra G-positive band. CLINICAL REPORT The index case was a 22-year-old woman, referred for genetic counseling because of a history of miscarriages at 2 times with a non-consanguineous partner. She is the first child of healthy non-consanguineous parents (Fig. 1). Detailed history revealed that her younger sister has reproductive failure due to recurrent miscarriages at 3 times, too. She hasn't any endocrine disorder, uterine abnormality or thrombophilia, antiphospholipid syndrome or alloimmune abnormality. Pregnancy 1 and 2 occurred in 2007 and ended in a first trimester abortion, the first one after 4 weeks and the second one after 6 weeks gestation. No additional information on these abortions is available. Cytogenetic studies at 500-550 band resolution on a peripheral blood sample revealed a 46,XX,9q12h+ karyotype (Fig. 2). Her sister had been pregnant 3 times and all pregnancies resulted in spontaneous abortions after 10-12 weeks of gestation. So we performed karyotype analysis on peripheral blood sample and we found the same chromosomal arrangement. Her other sister and father did not accept chromosome analysis. CYTOGENETIC STUDIES We studied 20 metaphases from peripheral blood lymphocytes from the index case, and all showed 46,XX,9q12h+ (Fig. 2). In addition, there was extra euchromatin material on the q arm of the chromosome 9. The karyotype of the sister was performed on peripheral blood lymphocytes and the high resolution G-banding showed the same arrangement as in the index case. DISCUSSION Miscarriage, the commonest complication of pregnancy, is the spontaneous loss of a pregnancy before the fetus has reached viability. …" @default.
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• W7119894 title "Can the classical euchromatic variants of 9q12/qh+ cause recurrent abortions?" @default.
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