A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads-Reference-Cited by-同舟云学术

A 45,X/46,XY DSD (Disorder of Sexual Development) case with an extremely uneven distribution of 46,XY cells between lymphocytes and gonads

Published:2015 Issue:1 Volume:24 Page:11-14
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Nomura Risa¹,Miyai Kentaro¹,Okada Michiyo²,Kajiwara Michiko¹,Ono Makoto¹,Ogata Tsutomu³²,Onishi Iichiro⁴,Sato Mana⁴,Sekine Masaki⁴,Akashi Takumi⁴,Mizutani Shuki¹,Kashimada Kenichi¹

Affiliation:

1. Department of Pediatrics and Developmental Biology, Graduate School, Tokyo Medical and Dental University, Tokyo, Japan

2. Department of Endocrinology and Metabolism, National Research Institute for Child Health and Development, Tokyo, Japan

3. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan

4. Department of Pathology, Graduate School, Tokyo Medical and Dental University, Tokyo Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/24/1/24_9994/_pdf

Reference10 articles.

1. 1. Knudtzon, J, Aarskog, D. 45,X/46,XY mosaicism. A clinical review and report of ten cases. Eur J Pediatr 1987;146: 266–71.

2. 2. Chang, HJ, Clark, RD, Bachman, H. The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 1990;46: 156–67.

3. 3. Telvi, L, Lebbar, A, Del Pino, O, Barbet, JP, Chaussain, JL. 45,X/46,XY mosaicism: report of 27 cases. Pediatrics 1999;104: 304–8.

4. 4. Tosson, H, Rose, SR, Gartner, LA. Description of children with 45,X/46,XY karyotype. Eur J Pediatr 2012;171: 521–9.

5. 5. Hersmus, R, Stoop, H, Turbitt, E, Oosterhuis, JW, Drop, SLS, Sinclair, AH, et al. SRY mutation analysis by next generation (deep) sequencing in a cohort of chromosomal Disorders of Sex Development (DSD) patients with a mosaic karyotype. BMC Med Genet 2012;13: 108.

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