A dicentric no. 15 chromosome with two satellite regions.
نویسندگان
چکیده
منابع مشابه
A male pseudohermaphrodite with a dicentric Y chromosome. Autoradiographic study.
A 13-year-old male pseudohermaphrodite (mixed gonadal dysgenesis, unilateral testicular differentiation) was found to be a chromosomal mosaic of the 45, X0/46, XY type, the Y chromosome being a symmetrical dicentric chromosome. Presumed ¥ chromosomes similar to this one have been observed before, but their identification was not supported by autoradiographic data. In the present study the ident...
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We report a 20-year-old female with features evocative of Turner syndrome (short stature, broad trunk, mild webbed neck), dysmorphic face, minor features of holo-prosencephaly (HPE), small hands and feet, excessive hair growth on anterior trunk and intellectual disability. Cytogenetic analysis identified a pseudodicentric 14;18 chromosome. Genome wide single nucleotide polymorphism (SNP) array ...
متن کاملDicentric Y chromosome in mixed gonadal dysgenesis.
A 15-year-old girl was investigated because of ambiguous genitalia. Her chromosome studies showed a 45, X/45, Xdic(Yq) mosaicism. The identity of the dicentric Y chromosome was demonstrated by its typical fluorescent banding patterns. Histological evidence of mixed gonadal dysgenesis with intragonadal tumour was observed, confirming the occurrence of gonadoblastoma associated with mosaicism in ...
متن کاملDicentric Y chromosome in an azoospermic male.
We describe a 28 year old male with a pseudodicentric Y chromosome who suffered from azoospermia attributed to maturation arrest of the primary spermatocyte, as diagnosed by testicular biopsy. Chromosome analysis, using G, Q and C banding techniques, revealed an abnormal karyotype of 45,X[7]/46,X,psu dic (Y)(pter-->q11.2::q11.2-->pter)[33]. Polymerase chain reaction (PCR) DNA analysis did not d...
متن کاملHomodicentric chromosomes: a distinctive type of dicentric chromosome.
This report describes two patients with a distinctive type of dicentric autosomal chromosome formed by breakage and union between homologous chromosomes. These stable chromosomes possess two C bands, implying the presence of two centromeric regions. The first child, evaluated for dysmorphic features was shown to have an abnormal chromosome 16, designated as 46, XX, -16, + dic (16) (pter leads t...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1977
ISSN: 1468-6244
DOI: 10.1136/jmg.14.5.381