PMID- 23450488
OWN - NLM
STAT- MEDLINE
DCOM- 20130726
LR  - 20130301
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 30
IP  - 1
DP  - 2013 Feb
TI  - [A de novo partial 5p deletion and cryptic 18p duplication detected by SNP-Array 
      in a boy featuring Cri du Chat syndrome].
PG  - 87-90
LID - 10.3760/cma.j.issn.1003-9406.2013.01.021 [doi]
AB  - OBJECTIVE: To determine the karyotype of a boy suspected to have Cri du Chat 
      syndrome with severe clinical manifestations, and to assess the recurrence risk 
      for his family. METHODS: High-resolution GTG banding was performed to analyze the 
      patient and his parents. Fluorescence in situ hybridization (FISH) with Cri du 
      Chat syndrome region probe as well as subregional probes mapped to 5pter, 5qter, 
      18pter, 18qter, and whole chromosome painting probe 18 was performed to analyze 
      the patient and his parents. In addition, single nucleotide polymorphism-based 
      arrays (SNP-Array) analysis with Affymetrix GeneChip Genome-wide Human SNP 
      Nsp/Sty 6.0 were also performed to analyze the patient. RESULTS: Karyotype 
      analysis indicated that the patient has carried a terminal deletion in 5p. FISH 
      with Cri du Chat syndrome region probe confirmed that D5S23 and D5S721 loci are 
      deleted. SNP-Array has detected a 15 Mb deletion at 5p and a 2 Mb duplication at 
      18p. FISH with 5p subtelomeric probes and 18p subtelomeric probe further 
      confirmed that the derivative chromosome 5 has derived from a translocation 
      between 5p and 18p, which has given rise to a 46,XY,der(5)t(5;18)(p15.1;p11.31)dn 
      karyotype. CONCLUSION: A de novo 5p partial deletion in conjunction with a 
      cryptic 18p duplication has been detected in a boy featuring Cri-du-Chat 
      syndrome. His parents, both with negative findings, have a low recurrence risk. 
      For its ability to detect chromosomal imbalance, SNP-Array has a great value for 
      counseling of similar patients and assessment of recurrence risks.
FAU - Hu, Jian-cheng
AU  - Hu JC
AD  - Institute of Reproduction and Stem Cell Engineering, Central South University, 
      Changsha, Hunan, People's Republic of China.
FAU - Tan, Ke
AU  - Tan K
FAU - Cheng, De-hua
AU  - Cheng DH
FAU - Li, Lu-yun
AU  - Li LY
FAU - Lu, Guang-xiu
AU  - Lu GX
FAU - Tan, Yue-qiu
AU  - Tan YQ
LA  - chi
PT  - Case Reports
PT  - English Abstract
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - China
TA  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi
JT  - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese 
      journal of medical genetics
JID - 9425197
RN  - Chromosome 18, trisomy 18p
SB  - IM
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 18
MH  - *Chromosomes, Human, Pair 5
MH  - Cri-du-Chat Syndrome/*diagnosis/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Phenotype
MH  - Polymorphism, Single Nucleotide
MH  - *Trisomy
EDAT- 2013/03/02 06:00
MHDA- 2013/07/28 06:00
CRDT- 2013/03/02 06:00
PHST- 2013/03/02 06:00 [entrez]
PHST- 2013/03/02 06:00 [pubmed]
PHST- 2013/07/28 06:00 [medline]
AID - 940630021 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2013.01.021 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Feb;30(1):87-90. doi: 
      10.3760/cma.j.issn.1003-9406.2013.01.021.