Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature

American Journal of Medical Genetics. Part a
Sung Yoon ChoDong-Kyu Jin

Abstract

Patients with Xp deletions have short stature and may have some somatic traits typical of Turner syndrome (TS), whereas gonadal function is generally preserved. In most studies of these patients, microsatellites have been used to determine the break point of the Xp deletion. In the present study, we describe the clinical, cytogenetic, and chromosomal microarray (CMA) analysis of a family with an Xp22.33-Xp22.12 deletion. Two female siblings, aged 8 years 9 months and 11 years 10 months, presented with short stature. The older sibling's height (index case) was 137.9 cm (-1.81 SDS) and the younger sibling's height was 118.6 cm (-2.13 SDS). The mother and both daughters had only a short stature; a skeletal survey showed normal findings except for mildly shortened 4th and 5th metacarpal bones. No features of TS were present. The deletion appeared terminal with a breakpoint within Xp22.2 located about 19.9 Mb from the Xp telomere. The deletion contained 102 protein-coding genes. A probe of the end breakage point was located at the 19,908,986th base of the X chromosome, and a probe of the marginal normal region near the breakage point was located at the 19,910,848th base of the X chromosome. Therefore, the breakage point was conclude...Continue Reading

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Citations

Mar 13, 2014·Prenatal Diagnosis·Rivka Sukenik-HalevyShay Ben-Shachar
Feb 11, 2015·Experimental and Therapeutic Medicine·Shaoyun WangYiming Mu
Oct 3, 2018·Cytogenetic and Genome Research·Amal Mahmoud MohamedInas Mazen
Feb 6, 2015·Annals of Pediatric Endocrinology & Metabolism·Yong Hee Hong, Young Lim Shin
Jun 20, 2019·Oxford Medical Case Reports·Fabiola D'AmbrosioZohra Shad

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