PMID- 29419873
OWN - NLM
STAT- MEDLINE
DCOM- 20180605
LR  - 20180605
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 35
IP  - 1
DP  - 2018 Feb 10
TI  - [Genetic analysis of a case with atypical neonatal Cri-du-chat syndrome].
PG  - 104-106
LID - 10.3760/cma.j.issn.1003-9406.2018.01.024 [doi]
AB  - OBJECTIVE To analyze the clinical features and genetic mutations in a neonate 
      with atypical Cri-du-chat syndrome, whom only featured with weak cry but had no 
      dysmorphic facial features and congenital heart disease. METHODS G-banding 
      karyotyping was performed on the child and her parents. The result was validated 
      by fluorescence in situ hybridization (FISH). Chromosome microarray (CMA) was 
      used to further delineate the mutation. RESULTS G-banding analysis suggested that 
      the child had a karyotype of 46,XX,del(5)(p14p15), while both of his parents had 
      a normal karyotype. FISH confirmed the absence of D5S23 and D5S721 at 5p15.2. A 
      25.7 Mb deletion was detected in the 5p15.33p14.1 region by CMA. CONCLUSION The 
      phenotype of Cri-du-chat syndrome can vary significantly among patients, 
      particularly in neonates, and can be easily mis-diagnosed. Combined cytogenetic 
      and molecular analysis can identify the missing fragments with greater precision.
FAU - He, Wenfeng
AU  - He W
AD  - Key Laboratory of Molecular Medicine, the Second Affiliated Hospital of Nanchang 
      University, Nanchang, Jiangxi 330006, China. Email: haiyanmu@163.com.
FAU - Chen, He
AU  - Chen H
FAU - Mu, Haiyan
AU  - Mu H
FAU - Li, Jie
AU  - Li J
LA  - chi
PT  - Case Reports
PT  - Journal Article
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
SB  - IM
MH  - Chromosome Banding
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - Cri-du-Chat Syndrome/diagnosis/*genetics
MH  - Cytogenetic Analysis/*methods
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotype
MH  - Karyotyping
EDAT- 2018/02/09 06:00
MHDA- 2018/06/06 06:00
CRDT- 2018/02/09 06:00
PHST- 2018/02/09 06:00 [entrez]
PHST- 2018/02/09 06:00 [pubmed]
PHST- 2018/06/06 06:00 [medline]
AID - 940635024 [pii]
AID - 10.3760/cma.j.issn.1003-9406.2018.01.024 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018 Feb 10;35(1):104-106. doi: 
      10.3760/cma.j.issn.1003-9406.2018.01.024.