Literature DB >> 8832137

Sex reversal in a child with the karyotype 46,XY, dup (1) (p22.3p32.3).

P Wieacker1, D Missbach, S Jakubiczka, S Borgmann, N Albers.   

Abstract

The karyotype 46,XY, dup(1) (p22.3p32.3) was found in a 10-year-old patient with sex reversal, mental retardation and multiple dysmorphic features. In other cases with duplication 1p but different breakpoints cryptorchidism and genital ambiguity have been observed suggesting the dosage effect of a locus in 1p involved in sex differentiation.

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Year:  1996        PMID： 8832137     DOI： 10.1111/j.1399-0004.1996.tb03786.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  5 in total

Review 1.  Genetic mechanisms underlying male sex determination in mammals.

Authors:  R P Piprek
Journal:  J Appl Genet       Date:  2009       Impact factor: 3.240

2.  Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

Authors:  B K Jordan; M Mohammed; S T Ching; E Délot; X N Chen; P Dewing; A Swain; P N Rao; B R Elejalde; E Vilain
Journal:  Am J Hum Genet       Date:  2001-03-29       Impact factor: 11.025

3.  Global survey of protein expression during gonadal sex determination in mice.

Authors:  Katherine Ewen; Mark Baker; Dagmar Wilhelm; R John Aitken; Peter Koopman
Journal:  Mol Cell Proteomics       Date:  2009-07-17       Impact factor: 5.911

4.  Polygenic sex determination in the cichlid fish Astatotilapia burtoni.

Authors:  Natalie B Roberts; Scott A Juntti; Kaitlin P Coyle; Bethany L Dumont; M Kaitlyn Stanley; Allyson Q Ryan; Russell D Fernald; Reade B Roberts
Journal:  BMC Genomics       Date:  2016-10-26       Impact factor: 3.969

5.  Array comparative genomic hybridisation-based identification of two imbalances of chromosome 1p in a 9-year-old girl with a monosomy 1p36 related phenotype and a family history of learning difficulties: a case report.

Authors:  Gregory J Fitzgibbon; Jill Clayton-Smith; Siddharth Banka; Susan J Hamilton; Margaret M Needham; Jonathan K Dore; Jake T Miller; Gareth D Pawson; Lorraine Gaunt
Journal:  J Med Case Rep       Date:  2008-11-19
  5 in total

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