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KMID : 1189120150120010049
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대한의학유전학회지
2015 Volume.12 No. 1 p.49 ~ p.56
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An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea
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Lee Bom-Yi
Park Ju-Yeon
Lee Yeon-Woo
Oh Ah-Rum
Lee Shin-Young
Choi Eun-Young
Kim Moon-Young
Ryu Hyun-Mee
Park So-Yeon
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Abstract
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We herein report an analysis of a female baby with a de novo dup(10p)/del(10q) chromosomal aberration. A prenatal cytogenetic analysis was performed owing to abnormal ultrasound findings including a choroid plexus cyst, prominent cisterna magna, and a slightly medially displaced stomach. The fetal karyotype showed additional material attached to the terminal region of chromosome 10q. Parental karyotypes were both normal. At birth, the baby showed hypotonia, upslanting palpebral fissures, a nodular back mass, respiratory distress, neonatal jaundice and a suspicious polycystic kidney. We ascertained that the karyotype of the baby was 46,XX,der(10)(pter→q26.3::p11.2→pter) by cytogenetic and molecular cytogenetic analyses including high resolution GTG-and RBG-banding, fluorescence in situ hybridization, comparative genomic hybridization, and short tandem repeat marker analyses. While almost all reported cases of 10p duplication originated from one of the parents with a pericentric inversion, our case is extraordinarily rare as the de novo dup(10p)/ del(10q) presumably originated from a rearrangement at the premeiotic stage of the parental germ cell or from parental germline mosaicism.
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KEYWORD
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Chromosome 10, trisomy 10p, Chromosome 10, monosomy 10q
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