PMID- 23322595
OWN - NLM
STAT- MEDLINE
DCOM- 20130701
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 161A
IP  - 2
DP  - 2013 Feb
TI  - A boy with partial trisomy of chromosome 3q24-q28 from paternal balanced 
      insertion and multiple congenital anomalies.
PG  - 327-30
LID - 10.1002/ajmg.a.35637 [doi]
AB  - Although many patients with duplication 3q syndrome have been described reports 
      on duplication derivatives from an insertion are rare in the previous literature. 
      Here we describe the genotype and phenotype of a 32-month-old boy with a partial 
      trisomy of 3q24-q28. We carefully mapped the aberration with SNP-array analysis, 
      and found a duplication region of 44 Mb. By conventional cytogenetic techniques 
      including fluorescence in situ hybridization (FISH) and spectral karyotyping 
      (SKY) analysis, the patient was found to have inherited a derivative chromosome 6 
      from his father, which was contained a direct insertion from 3q24-28. The main 
      clinical features of the patient included severe mental retardation, postnatal 
      developmental delay, ventricular septal defect (VSD), and craniofacial anomalies 
      including cleft palate, frontal bossing, hypertelorism, and a broad nasal bridge. 
      The symptoms partially overlap with previously reported patients with duplication 
      in the same region. Prenatal diagnosis for the fetus of this family was performed 
      based on the results of genetic tests and ultrasonic evaluation.
CI  - Copyright (c) 2013 Wiley Periodicals, Inc.
FAU - Zhu, Haiyan
AU  - Zhu H
AD  - Prenatal Diagnosis Center, Departments of Obstetrics and Gynecology, Nanjing Drum 
      Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, 
      Nanjing, Jiangsu, China.
FAU - Hu, Yali
AU  - Hu Y
FAU - Zhu, Ruifang
AU  - Zhu R
FAU - Yang, Ying
AU  - Yang Y
FAU - Zhu, Xiangyu
AU  - Zhu X
FAU - Wang, Wanjun
AU  - Wang W
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20130115
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis/genetics
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 3
MH  - Cleft Palate/*diagnosis/genetics
MH  - Heart Septal Defects, Ventricular/diagnostic imaging/surgery
MH  - Humans
MH  - Male
MH  - Molecular Diagnostic Techniques
MH  - *Mutagenesis, Insertional
MH  - Pedigree
MH  - Polymorphism, Single Nucleotide
MH  - Trisomy/*diagnosis
MH  - Ultrasonography
EDAT- 2013/01/17 06:00
MHDA- 2013/07/03 06:00
CRDT- 2013/01/17 06:00
PHST- 2012/04/30 00:00 [received]
PHST- 2012/07/30 00:00 [accepted]
PHST- 2013/01/17 06:00 [entrez]
PHST- 2013/01/17 06:00 [pubmed]
PHST- 2013/07/03 06:00 [medline]
AID - 10.1002/ajmg.a.35637 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2013 Feb;161A(2):327-30. doi: 10.1002/ajmg.a.35637. Epub 2013 
      Jan 15.