Korean J Lab Med.  2009 Feb;29(1):77-81. 10.3343/kjlm.2009.29.1.77.

A Case of Mosaic Ring Chromosome 4 with Subtelomeric 4p Deletion

• Kim JH
• Oh PS
• Na HY
• Kim SH
• Cho HC

• KMID: 1781598
• DOI: http://doi.org/10.3343/kjlm.2009.29.1.77

Abstract

Ring chromosome is a structural abnormality that is thought to be the result of fusion and breakage in the short and long arms of chromosome. Wolf-Hirschhorn syndrome (WHS) is a well-known congenital anomaly in the ring chromosome 4 with a partial deletion of the distal short arm. Here we report a 10-month-old male of mosaic ring chromosome 4 with the chief complaint of severe short stature. He showed the height of -4 standard deviation, subtle hypothyroidism and mild atrial septal defect/ventricular septal defect, and also a mild language developmental delay was suspected. Brain magnetic resonance imaging showed multifocal leukomalacia. Chromosomal analysis of the peripheral blood showed the mosaic karyotype with [46,XY,r(4)(p16q35)[84]/45,XY,-4[9]/91,XXYY, dic r(4;4)(p16q35;p16q35)[5]/46,XY,dic r(4;4)(p16q35;p16q35)[2]]. FISH study showed the deletion of the 4p subtelomeric region with the intact 4q subtelomeric and WHS region. Both paternal and maternal karyotypes were normal. We compared the phenotypic variation with the previously reported cases of ring chromosome 4. The ring chromosome 4 with the subtelomeric deletion of short arm seems to be related with the phenotype of short stature.

Keyword

r(4) chromosome; Mosaic ring chromosome; Short stature

MeSH Terms

*Chromosome Deletion
*Chromosomes, Human, Pair 4
Growth Disorders/*diagnosis/genetics
Humans
In Situ Hybridization, Fluorescence
Infant
Karyotyping
Male
*Ring Chromosomes
Telomere

Figure

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  Fig. 1. Brain MRI showing multifocal leukomalacia in the bilateral occipito-parietal, right temporal and bilateral frontal lobes (A) and veno us angioma in the left frontal lobe (B).

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  Fig. 2. (A) Giemsa-banding karyogram of peripheral blood cells: 46,XY,r(4)(p16q35). (B) Partial karyogram showing normal chromosome 4 (left side) and dic r(4;4)(p16q35;p16q35) (right side).

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  Fig. 3. Metaphase FISH of peripheral blood cells using a 4p subtelomeric probe (Cytocell, UK), 4q subtelomeric and WHS probes (Abbott Molecular/Vysis, USA). (A) The single green color indicates deletion of a 4p subtelomere. (B, C) Intact 4q and WHS probes were detected.

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