Korean J Lab Med.  2010 Jun;30(3):318-324. 10.3343/kjlm.2010.30.3.318.

A Girl with 15q Overgrowth Syndrome and dup(15)(q24q26.3) that Included Telomeric Sequences

• Gutierrez-Franco MdlA
• Madariaga-Campos MdlL
• Vasquez-Velasquez AI
• Matute E
• Guevara-Yanez R
• Rivera H

• KMID: 1781634
• DOI: http://doi.org/10.3343/kjlm.2010.30.3.318

Abstract

Distal 15q trisomy or tetrasomy is associated with a characteristic phenotype that includes mild to moderate intellectual disability, abnormal behavior, speech impairment, overgrowth, hyperlaxity, long face, prominent nose, puffy cheeks, pointed chin, small ears, and hand anomalies (mainly arachno- and camptodactyly). We present the case of a 13-yr-old girl with the main clinical features of 15q overgrowth syndrome and a 46,XX,dup(15)(q24q26.3)[117]/46,XX[3].ish dup(15)(q24q26.3) (SNPRN+,PML+,subtel++,tel++) de novo karyotype. The findings in this case are consistent with those in the previous distal 15q trisomy cases that presented with overgrowth and mental retardation. Further, the rearranged chromosome had a double set of directly oriented telomeric and subtelomeric sequences.

Keyword

Chromosome 15; Distal 15q duplication; 15q overgrowth syndrome; Interstitial telomere

MeSH Terms

Adolescent
*Chromosome Aberrations
*Chromosomes, Human, Pair 15
Female
Growth Disorders/diagnosis/*genetics
Humans
In Situ Hybridization, Fluorescence
Mental Retardation/diagnosis/*genetics
Syndrome
Telomere/*chemistry

Figure

• 

  Fig. 1. Images of the patient as a newborn (A and B) and at 13 yr of age (C and D). (A) Note the sloping forehead, palpebral fissures oriented slightly downwards and outwards, bulbous nose with prominent bridge and septum, puffy cheeks, midline crease in the lower lip, and micrognathia. (B) Additional postaxial rudimentary digits and overlapping fingers in both hands. (C) Note the high forehead, elongated face, large nose, and pointed prominent chin. (D) Arachno-camptodactyly in both hands.

• 

  Fig. 2. The patient's dup(15)(q24q26.3). (A) 3 G-banded chromosome 15 pairs with the duplicated homolog on the right. Note the distinct satellites on the normal member. (B) A partial metaphase after FISH with the dual-color Prader-Willi/Angelman (SNRPN) Region and 15q subtel clone 154P1 probe set labeled red and green, respectively; note the double 15q subtel green signal directly oriented. (C) A partial metaphase after FISH with the pantelomeric probe (red signal); note 2 signals in the same direct orientation.

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