A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter--q11;p13),-Y de novo karyotype
| Autor: | A, Tatar, S, Oztas, T, Yakut, R, Ors |
|---|---|
| Rok vydání: | 2005 |
| Předmět: |
Male
Chromosomes Human Y DNA Mutational Analysis Infant Newborn Seminal Plasma Proteins Translocation Genetic Chromosome Banding Craniofacial Abnormalities Chromosomes Human Pair 1 Genetic Loci Karyotyping Chromosome Inversion Humans Abnormalities Multiple Chromosome Deletion In Situ Hybridization Fluorescence Sex Chromosome Aberrations |
| Zdroj: | Genetic counseling (Geneva, Switzerland). 16(2) |
| ISSN: | 1015-8146 |
| Popis: | A dysmorphic newborn with 45,x,der(1)inv(1)(p13;qter)t(y;1)(pter--q11;p13),-Y de novo karyotype: Y/autosome translocations are very rare chromosomal rearrangements. In most cases, the long arm of the Y chromosome is translocated onto an autosome and most patients are referred because of male infertility. Y/1 translocations are very rare, and have been reported in seven patients so far. Pericentric inversions may be seen in all chromosomes and are not associated with phenotypic abnormalities. Here we report a 6-day old male baby with prenatal growth retardation, frontal bossing, hypertelorism, micrognathia, cleft soft palate, absent uvula, hypospadias, simian line in both hands and hammer toes. Cytogenetic analysis was performed with GTG-banding, C-banding and FISH analysis containing X centromeric probe, Yq12-qter locus specific probe and whole chromosome Y probe. An unbalanced Y/1 translocation was diagnosed: 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter--q11;p13),-Y. |
| Databáze: | OpenAIRE |
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