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Literature DB >> 8092876

Trisomy 22 and intersex.

R M Nicholl¹, L Grimsley, L Butler, R W Palmer, H C Rees, M O Savage, K Costeloe.

Abstract

Complete trisomy 22, with or without mosaicism, has been reported as a distinct syndrome. In this report an infant is described who was externally male but with female rudimentary internal organs and whose karyotype was 47,XX+22.

Entities: Disease Species

Mesh：

Year: 1994 PMID： 8092876 PMCID： PMC1061073 DOI： 10.1136/fn.71.1.f57

Source DB: PubMed Journal: Arch Dis Child Fetal Neonatal Ed ISSN： 1359-2998 Impact factor: 5.747

4 in total

1. Confirmation of trisomy 22 by trypsin-giemsa staining.

Authors: M L Begleiter; P Kulkarni; D J Harris
Journal: J Med Genet Date: 1976-12 Impact factor: 6.318

2. Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

Authors: H J Kim; L Y Hsu; L C Goldsmith; L Strauss; K Hirschhorn
Journal: J Med Genet Date: 1977-04 Impact factor: 6.318

3. Trisomy 22. Two new cases and delineation of the phenotype.

Authors: V B Penchaszadeh; R Coco
Journal: J Med Genet Date: 1975-06 Impact factor: 6.318

4. The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism.

Authors: G D Berkovitz; P Y Fechner; S M Marcantonio; G Bland; G Stetten; P N Goodfellow; K D Smith; C J Migeon
Journal: Hum Genet Date: 1992-02 Impact factor: 4.132

4 in total

7 in total

1. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.

Authors: Nadia Falah; Jennifer E Posey; Willa Thorson; Paul Benke; Mustafa Tekin; Brocha Tarshish; James R Lupski; Tamar Harel
Journal: Am J Med Genet A Date: 2017-04 Impact factor: 2.802

Trisomy 22 and intersex.

1. Confirmation of trisomy 22 by trypsin-giemsa staining.

2. Familial translocation with partial trisomy of 13 and 22: evidence that specific regions of chromosomes 13 and 22 are responsible for the phenotype of each trisomy.

3. Trisomy 22. Two new cases and delineation of the phenotype.

4. The role of the sex-determining region of the Y chromosome (SRY) in the etiology of 46,XX true hermaphroditism.

1. 22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.

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

3. Live-born trisomy 22: patient report and review.

Review 4. Mammalian sex determination—insights from humans and mice.

Review 5. Male Hypogonadism and Disorders of Sex Development.

Review 6. Molecular Characterization of XX Maleness.

7. Molecular mechanism of male differentiation is conserved in the SRY-absent mammal, Tokudaia osimensis.