Ann Rehabil Med.  2017 Oct;41(5):881-886. 10.5535/arm.2017.41.5.881.

Patient With Delayed Development Resulting From De Novo Duplication of 7q36.1-q36.3 and Deletion of 9p24.3

• Choi A
• Oh JY
• Kim M
• Jang W
• Jang DH

• KMID: 2440817
• DOI: http://doi.org/10.5535/arm.2017.41.5.881

Abstract

Patients with a duplication from 7q36 to the terminus or a deletion of 9p24 have been reported, whereas those harboring both mutations have not. Here, we report a patient with simultaneous de novo 7q36.1-q36.3 duplication and 9p24.3 deletion. A 6-year-old boy presented with speech developmental delay, microcephaly, and dysmorphic features, including a long face and small nose. Chromosome and array comparative genomic hybridization analyses revealed 46,XY,dup(7)(q36.1-q36.3) and del(9)(p24.3). The sizes of the duplication and deletion were 9.9 Mb and 1.9 Mb, respectively. The duplication of chromosome 7 contained 68 known genes, of which 3 are related with entries in the Developmental Disorders Genotype-to-Phenotype (DDG2P) database. The deletion of chromosome 9 contained 6 known genes, of which 2 are in the DDG2P database. We investigated the genotype and phenotype in this patient, and reviewed the relevant literatures for possible clinical presentation in these variations.

Keyword

Developmental disabilities; Chromosome disorders

MeSH Terms

Child
Chromosome Disorders
Chromosomes, Human, Pair 7
Chromosomes, Human, Pair 9
Comparative Genomic Hybridization
Developmental Disabilities
Genotype
Humans
Male
Microcephaly
Nose
Phenotype

Figure

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  Fig. 1 Antero-posterior view (A) and lateral view (B) of the patient showed microcephaly and mild facial dysmorphic features, such as a long face with high forehead, small nose and ears.

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  Fig. 2 Comparative genomic hybridization analysis showed 46, XY,duplication of 7q36.1-q36.3 (A), and deletion of 9p24.3 (B).

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