Andrology & Gynecology: Current ResearchISSN: 2327-4360

Reach Us +1 850 900 2634
All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Short Communication, Androl Gynecol Curr Res Vol: 4 Issue: 3

A 6 Year Old with Characteristics Similar to Russell Silver and Downs Syndrome Identified as Klinefelter Proband

Deepika MLN1*, P Srinivas Rao2, Reddy DVS3, Shrivastava A4
1Department of Cytogenetics, Cytomol Labs, Gandhinagar, Hyderabad, India
2Department of Endocrinology, Gandhi Medical College, Hyderabad, India
3Department of Endocrinology, Gandhi Hospital, Hyderabad, India
4Cytomol Labs, Gandhinagar, Hyderabad, India
Corresponding author : Deepika MLN
Department of Cytogenetics, Cytomol Labs, Gandhinagar, Hyderabad, India
Tel: 91-9885617014
E-mail: [email protected]
Received: November 02, 2016 Accepted: November 23, 2016 Published: November 30, 2016
Citation: Deepika MLN, Rao PS, Reddy DVS, Shrivastava A (2016) A 6 Year Old with Characteristics Similar to Russell Silver and Downs Syndrome Identified as Klinefelter Proband. Androl Gynecol: Curr Res 4:2. doi: 10.4172/2327-4360.1000151

Abstract

First described by Klinefelter et al. 1942, this syndrome (KS) is a chromosomal disorder represented by most of the patients with a genotype of 47XXY, and approximately 15% of them are mosaics with variable phenotype. The cytogenetic and biochemical investigations of a 6 year old mosaicism Klinefelter syndrome boy lacking typical clinical features such as tall stature or gynaecomastia but presenting other clinical features such as short stature, asymmetrical body, sparse eyebrows, low set ears, broad nasal ridge, small penis and small testis dysmorphic with Down’s and Russell silver syndrome have been reported. Karyotype from whole blood culture revealed mosaicism with a few number of cells showing the syndrome genotype 47 XXY (24%) and the predominant cell line being normal 46 XY (62%). This was confirmed by fluorescence in situ hybridization (FISH). This is the youngest case to be reported for Klinefelter syndrome as diagnosis is often missed or delayed till adulthood because of the low index of suspicion.

Keywords: Klinefelter; Russell-silver; Mosaicism; Karyotype

Track Your Manuscript

Share This Page

Associations