Cat eye syndrome owing to tetrasomy 22pter leads to q11.
نویسندگان
چکیده
منابع مشابه
Cat eye syndrome owing to tetrasomy 22 pter - * ql 1
associated with advanced parental age' and may arise from unequal crossing over during gametogenesis. We are unaware of any instance ofrecurrence or inheritance of an autosomal direct duplication. Two inherited duplications of the X chromosome have been reported, but with minor or no physical effects in the carrier females.2 3The risk of recurrence is probably low but unknown and therefore ante...
متن کاملCat eye syndrome owing to tetrasomy 22 pter - * ql 1 GOLDER
associated with advanced parental age' and may arise from unequal crossing over during gametogenesis. We are unaware of any instance ofrecurrence or inheritance of an autosomal direct duplication. Two inherited duplications of the X chromosome have been reported, but with minor or no physical effects in the carrier females.2 3The risk of recurrence is probably low but unknown and therefore ante...
متن کامل[Cat eye syndrome].
NEUROLOGICAL DISORDERS mental retardation mental retardation OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects strabismus convergent, esotropia, misalignment of the visual axes of the eyes iris anomalie...
متن کاملRECONSIDERATION OF THE CAT EYE SYNDROME: RECIPROCAL TRANSLOCATION T(1l,22) LEADING TO PARTIAL TRISOMY OF llq AND 22.
We are reporting a case of 47 chromosome complement with an extra rearranged chromosome 22pter→22qll:: llq23 → llqter in a child with multiple malformations whose mother has a balanced reciprocal translocation t(1l,22) with a history of two previous abortions. We emphasize the importance of family study in such cases.
متن کاملPartial Tetrasomy of Chromosome 22q11.1 Resulting from a Supernumerary Isodicentric Marker Chromosome in a Boy with Cat-eye Syndrome
The 22q11 region has been implicated in chromosomal rearrangements that result in altered gene dosage, leading to three different congenital malformation syndromes: DiGeorge syndrome, cat-eye syndrome (CES), and der(22) syndrome. Although DiGeorge syndrome is a common genomic disorder on 22q11, CES is quite rare, and there has been no report of Korean CES cases with molecular cytogenetic confir...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1984
ISSN: 1468-6244
DOI: 10.1136/jmg.21.1.60