Korean J Obstet Gynecol.  2011 Jul;54(7):386-389. 10.5468/KJOG.2011.54.7.386.

A case of terminal deletion of chromosome 10p

• Cho JH
• Park JE
• Ko MK
• Kim EJ
• Park JK
• Lee SA
• Lee JH
• Paik WY

• KMID: 2274055
• DOI: http://doi.org/10.5468/KJOG.2011.54.7.386

Abstract

Chromosome 10p deletion (partial monosomy 10p) is rare chromosomal disorder. It was first reported in 1970. Since then, as far as we know, about 45 patients have been described. The main feature of this syndrome are craniofacial dysmorphism, congenital heart disease, vesicoureteral abnormalities, and developmental delay. We have experienced a prenatal case of Chromosome 10p terminal deletion by doing cytogenetic study due to high Down syndrome risk on quadruple test and cleft lip on prenatal ultrasonography. Conventional cytogenetic result from cord blood was 46,XY,del(10)(p13), molecular cytogenetic techniques using bacterial artificial chromosome array comparative genomic hybridization and fluorescence in situ hybridization analysis result was 46,XY,del(10)(p14)(NEBL-). To our knowledge, this karyotype may be the first report in Korea. We present this case with brief review of literature.

Keyword

10p Deletion Syndrome (Partial); Molecular cytogenetic techniques; BAC array CGH; Fluorescence In situ hybridization; Prenatal ultrasonography

MeSH Terms

Chromosome Deletion
Chromosome Disorders
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 10
Cleft Lip
Comparative Genomic Hybridization
Cytogenetic Analysis
Cytogenetics
Down Syndrome
Fetal Blood
Fluorescence
Heart Diseases
Humans
In Situ Hybridization
Karyotype
Korea
Monosomy
Ultrasonography, Prenatal
Chromosome Deletion
Chromosome Disorders
Chromosomes, Human, Pair 10

Figure

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  Fig. 1. Transabdominal sonography shows fetal cleft lip (arrows).

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  Fig. 2. Karyotype of fetus from cord blood showing 46,XY,del(10)(p13) (arrow).

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  Fig. 3. Bacterial artificial chromosome array comparative genomic hybridization shows deficit of DNA copy on chromosome 10 (arrow).

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  Fig. 4. Fluorescence in situ hybridization analysis. Fluorescent signal (green signal, orange signal) is detected in the distal region of the normal chromosome 10 (long arrow) and signal defect (orange signals) is showed in deleted chromosome 10 (arrow). Chromosomes were counterstained with FITC/DAPI (×1000).

Reference

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