J Genet Med.  2015 Jun;12(1):49-56. 10.5734/JGM.2015.12.1.49.

An unusual de novo duplication 10p/deletion 10q syndrome: The first case in Korea

• Lee BY
• Park JY
• Lee YW
• Oh AR
• Lee SY
• Choi EY
• Kim MY
• Ryu HM
• Park SY

• KMID: 2055590
• DOI: http://doi.org/10.5734/JGM.2015.12.1.49

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.

Keyword

Chromosome 10; trisomy 10p; Chromosome 10; monosomy 10q

MeSH Terms

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