A Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46, XY with SHOX Haploinsufficiency, External Male Genitalia, and Short Stature

被引：5

作者：

Ekici, Cemal ^{[1
]}

Esener, Zeynep ^{[1
]}

Korkmaz, Selcen ^{[1
]}

Salturk, Nihal ^{[1
]}

Yuksel, Sengul ^{[1
]}

Koc, Ahmet ^{[1
]}

机构：

[1] Inonu Univ, Fac Med, Dept Med Biol & Genet, TR-44280 Malatya, Turkey

来源：

SEXUAL DEVELOPMENT | 2019年 / 13卷 / 01期

关键词：

Isodicentric Y; Mosaicism; SHOX; SRY; ISODICENTRIC Y-CHROMOSOME; MIXED GONADAL-DYSGENESIS; GENE; DEFICIENCY; MUTATION; PATIENT; INFANT; FISH;

D O I：

10.1159/000495201

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

In this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosomal analyses were performed on cultured peripheral blood lymphocytes of the patient and his parents and showed the patient's karyotype mos 45, X[20]/46, X, idic(Y)(p11.32)[29]/46, XY[1]. The karyotypes of the parents were normal. Subsequently, specific FISH probes were hybridized to the related regions of the sex-determining region Y (SRY), centromere X/Y (CEP X/Y), and short stature homeobox (SHOX) genes. Simultaneous SNP array-CGH was conducted. As to our knowledge, we present the first patient with mosaic isodicentric Y chromosome with 3 different cell lines and normal male external genitalia. Our results suggest that it would be beneficial to study cytogenetic and molecular cytogenetic methods together for better diagnostic accuracy and treatment. (C) 2018 S. Karger AG, Basel

引用

页码：41 / 46

页数：6

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