An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea.
- Author:
Bom Yi LEE
1
;
Ju Yeon PARK
;
Yeon Woo LEE
;
Ah Rum OH
;
Shin Young LEE
;
Eun Young CHOI
;
Moon Young KIM
;
Hyun Mee RYU
;
So Yeon PARK
Author Information
- Publication Type:Case Report
- Keywords: Chromosome 10; trisomy 10p; Chromosome 10; monosomy 10q
- MeSH: Choroid Plexus; Chromosome Aberrations; Chromosomes, Human, Pair 10; Cisterna Magna; Comparative Genomic Hybridization; Cytogenetic Analysis; Cytogenetics; Female; Fluorescence; Germ Cells; Humans; In Situ Hybridization; Infant, Newborn; Jaundice, Neonatal; Karyotype; Korea; Microsatellite Repeats; Mosaicism; Muscle Hypotonia; Parents; Parturition; Polycystic Kidney Diseases; Stomach; Ultrasonography
- From:Journal of Genetic Medicine 2015;12(1):49-56
- CountryRepublic of Korea
- Language:English
- Abstract: 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.
