A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter -> 4q11;p13),-Y De novo karyotype

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Date

2005

Journal Title

Journal ISSN

Volume Title

Publisher

Medecine et Hygiene

Abstract

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 sofar. 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.

Description

Keywords

Biotechnology & applied microbiology, Genetics & heredity, Medical ethics, Research & experimental medicine, Unbalanced Y/1 translocation, Y/autosome translocation, Pericentric inv(1), Familial pericentric-inversion, Y-autosome translocation, Reciprocal translocation, Chromosome-1, Infertility, Simiae

Citation

Tatar, A. vd. (2005). "A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter -> 4q11;p13),-Y De novo karyotype". Genetic Counseling, 16(2), 173-177.