Partial monosomy 7q.
نویسندگان
چکیده
We report a case of partial monosomy 7q and partial trisomy 14q in a 4 year old male with microcephaly, prominent eyes, arched eyebrows, malformed ears and overlapping of toes. The unbalanced rearrangement resulted in monosomy of 7q33-->qter and trisomy of 14q32.2-->qter. The clinical phenotype was similar to the other cases of 7q deletion.
منابع مشابه
A case of partial 5q trisomy associated with partial 7q monosomy.
A 1-year-old girl with partial 5q trisomy and partial 7q monosomy had ocular abnormalities that included bilateral blepharoptosis and Leber's congenital amaurosis. A single bright-flash electroretinogram (dark-adapted, white stimulation) disclosed subnormal bilateral responses. Her maculas showed a reddish spot surrounded by a broad, greyish retinal zone. Cytogenetic studies disclosed deletion ...
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Trisomy 7q or 7q duplication has been described with specific craniofacial dysmorphic features and clinical manifestations, since the chromosomal abnormality was first described by Vogel et al. in 1973 1, 2) . But, trisomy 7p syndrome rarely originates de novo; it usually results from a parental balanced translocation, which alters the phenotype attributable to trisomy7q. Here we report on two ...
متن کاملFamilial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement.
A family with an insertional type of chromosome rearrangement involving chromosomes 7 and 13 is reported. An interstitial deletion of a segment of chromosome 7 (7q32 leads to 34) had been inserted into the long arm of chromosome 13 at breakpoint q32. Segregation of this chromosome rearrangement gave rise to three subjects who were monosomic for the involved segment of chromosome 7. The karyotyp...
متن کاملPartial trisomy 7 (q32----qter) syndrome in two children.
Two unrelated children are described with a partial trisomy 7 (q32----qter). Their phenotypes are compared with other reported cases with both this trisomy and others of the 7q arm. Several apparently useful pathognomonic features are distinguished. The phenotypic variability between trisomic persons within and between families is discussed. It is suggested that the disparate monosomies always ...
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عنوان ژورنال:
- Indian pediatrics
دوره 48 5 شماره
صفحات -
تاریخ انتشار 2011