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首页> 外文期刊>Egyptian Journal of Medical Human Genetics >Hereditary multiple exostoses, macrocephaly, congenital heart disease, developmental delay, and mental retardation in a female patient: A possible new syndrome? Or new association?
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Hereditary multiple exostoses, macrocephaly, congenital heart disease, developmental delay, and mental retardation in a female patient: A possible new syndrome? Or new association?

机译：女性患者的遗传性多发性外生糖，大头畸形，先天性心脏病，发育迟缓和智力低下：可能是新综合征吗？还是新的协会？

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Hereditary multiple exostoses (HME) or multiple osteochondromas are an autosomal dominant condition and are genetically heterogeneous. It is characterized by development of two or more cartilage capped bony outgrowths (osteochondromas) of the long bones. Osteochondromas develop and increase in size in the first decade of life, ceasing to grow when the growth plates close at puberty. HME type-I is caused by mutation in the gene encoding exostosin-1 EXT1, which maps to chromosome 8q24. Type-II is caused by mutation in the gene encoding exostosin-2 EXT2 on chromosome 11p12-p11; and type III has been mapped to a locus on chromosome 19, EXT3. We report a de novo case of HME at the Kuwait medical genetic centre (KMGC) came for consultation regarding her poor school performance. She has painless bony swellings over her extremities, macrocephaly, congenital heart disease, obesity, history of developmental delay, and moderate mental retardation. Fluorescent In Situ Hybridization (FISH) analysis done using probes specific for regions 8p22/CEP8/& 8q24.12-8q24.13 showed delineation of two copies of normal sized chromosome 8; also Cycline D1 for 11q13 locus and CEP11, telomeric regions 11q & 11p, all showed normal signals. Telomeric 19p was used to rule out any deletion of 19p and was normal too.
机译：遗传性多个外生糖（HME）或多个骨软骨瘤是常染色体显性遗传疾病，在遗传上是异质的。它的特征是长骨的两个或多个软骨覆盖的骨长出物（骨软骨瘤）。骨软骨瘤在生命的头十年发展并增大，在青春期生长板关闭时逐渐停止增长。 HME I型是由编码exostosin-1 EXT1的基因突变引起的，该基因映射到8q24染色体。 II型是由11p12-p11染色体上编码exostosin-2 EXT2的基因突变引起的; III型已被定位到19号染色体EXT3上的一个基因座。我们报告了科威特医学遗传中心（KMGC）发生的一例HME新生病例，因她的学习成绩差而接受了咨询。她的四肢，大头畸形，先天性心脏病，肥胖症，发育迟缓史和中度智力低下无骨痛肿胀。使用特异于区域8p22 / CEP8 /＆8q24.12-8q24.13的探针进行的荧光原位杂交（FISH）分析显示了正常大小8号染色体的两个拷贝的轮廓。 11q13位点和CEP11的Cycline D1，端粒区域11q和11p均显示正常信号。端粒19p用于排除19p的任何缺失，这也是正常的。

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