没有亚端粒序列丢失的遗传环染色体8

Cedric Le Caignec , Michelle Boceno , Sebastien Jacquemont , Sylvie Nguyen The Tich , Jean-Marie Rival , Albert David
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引用次数: 25

摘要

我们报告的第一例遗传性环染色体8综合征没有丢失的亚端粒序列。先证者是一个6岁半的男孩,有身材矮小,小头畸形,轻度智力迟钝,以及多动和注意力缺陷等行为问题。他的母亲表现出相同的身体特征,但智力正常。家族病史还显示,他有一位叔叔和一位祖母,身材矮小,患有小头症。据报道,叔父患有中度智力迟钝。对儿童和母亲外周血淋巴细胞进行核型和荧光原位杂交(FISH)分析。儿童核型为46,XY,r(8)(p23q24.3)[24]/45,XY, -8[2],母亲核型为46,XX,r(8)(p23q24.3)[22]/45,XX, -8 [2]/47,XX,r(8)(p23q24.3), +r(8)(p23q24.3)[1]。FISH研究显示,孩子和母亲的亚端粒序列都没有缺失,这表明没有或很少的染色体常染色质被删除。这些发现表明,不丢失亚端粒序列的8号环染色体可以遗传,同一家族的携带者具有从轻度智力迟钝到正常智力的认知功能。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Inherited ring chromosome 8 without loss of subtelomeric sequences

We report the first case of inherited ring chromosome 8 syndrome without loss of subtelomeric sequences. The proband is a 6 1/2-year-old boy with short stature, microcephaly, mild mental retardation, and behavioral problems including hyperactivity and attention deficit. His mother presented the same physical features but intelligence was normal. Family history also revealed an uncle and a grandmother, with short stature and microcephaly. Moderate mental retardation was reported in the uncle. Karyotypes and fluorescence in situ hybridization (FISH) analyses were performed on peripheral blood lymphocytes for both child and mother. The child’s karyotype was reported as 46,XY,r(8)(p23q24.3)[24]/45,XY,–8[2] and the mother’s karyotype 46,XX,r(8)(p23q24.3)[22]/45,XX,–8[2]/47,XX,r(8)(p23q24.3), +r(8)(p23q24.3)[1]. FISH studies showed no deletion of subtelomeric sequences for both child and mother indicating that no or little chromosomal euchromatic material has been deleted. These findings indicate that ring chromosome 8 without loss of subtelomeric sequences can be inherited and that carriers in a same family present with cognitive function ranging from mild mental retardation to normal intelligence.

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