PMID- 25876691
OWN - NLM
STAT- MEDLINE
DCOM- 20150517
LR  - 20181202
IS  - 0578-1310 (Print)
IS  - 0578-1310 (Linking)
VI  - 53
IP  - 2
DP  - 2015 Feb
TI  - [Infantile spasm associated with 5q14.3 microdeletion syndrome: clinical and 
      genetic characterization of a core family].
PG  - 140-2
AB  - OBJECTIVE: To characterize the clinical feature of a child with infantile spasm, 
      karyotype and molecular cytogenetic analyses were performed to investigate the 
      cause of disease and choose a suitable prenatal diagnostic method for the couple 
      with the child. METHOD: Routine G-banding was performed to analyze the karyotype 
      of the patient and her parents, and molecular karyotyping was performed using SNP 
      array. Confirmation and segregation studies were performed by fluorescence in 
      situ hybridization (FISH). RESULT: The patient presented with severe psychomotor 
      retardation, epilepsy, muscular hypotonia, stereotypic behavior and facial 
      phenotype characterized by bulging forehead, cupid-bow upper lip, large ears with 
      prominent lobes and pronounced occipital protuberance. Subdural collection of 
      fluid was shown in cranial CT scan, and frequent interictal epileptiform 
      discharges and hypsarrhythmia was shown in EEG monitoring. Routine G-banding 
      revealed a normal female karyotype. A 2.03 Mb deletion in 5q14.3 including MEF2C 
      gene was revealed using SNP array, and the patient's molecular karyotype was arr 
      5q14.3 (87 538 430-89 565 757) x1. FISH with locus-specific probe RP11-293L20 
      from the deleted region on metaphase preparations of the patient and her parents 
      confirmed the de novo occurrence of the deletion. CONCLUSION: The microdeletion 
      of 5q14.3 was the cause of infantile spasm in the patient. FISH confirmed the de 
      novo occurrence of the microdeletion. SNP array should be chosen as prenatal 
      diagnostic method for the couple with the child.
FAU - Yu, Dongyi
AU  - Yu D
AD  - Department of Genetics, Qingdao Maternal and Children's Hospital, Qingdao 266034, 
      China. Email: dongyi_yu@163.com.
FAU - Li, Shuo
AU  - Li S
AD  - Department of Genetics, Qingdao Maternal and Children's Hospital, Qingdao 266034, 
      China.
FAU - Jiang, Nan
AU  - Jiang N
AD  - Department of Genetics, Qingdao Maternal and Children's Hospital, Qingdao 266034, 
      China.
LA  - chi
PT  - Case Reports
PT  - Journal Article
PL  - China
TA  - Zhonghua Er Ke Za Zhi
JT  - Zhonghua er ke za zhi = Chinese journal of pediatrics
JID - 0417427
SB  - IM
MH  - Child
MH  - *Chromosome Deletion
MH  - Chromosome Structures
MH  - *Chromosomes
MH  - Cytogenetic Analysis
MH  - Epilepsy
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Phenotype
MH  - Pregnancy
MH  - Prenatal Diagnosis
MH  - Spasms, Infantile/*genetics
MH  - Syndrome
EDAT- 2015/04/17 06:00
MHDA- 2015/05/20 06:00
CRDT- 2015/04/17 06:00
PHST- 2015/04/17 06:00 [entrez]
PHST- 2015/04/17 06:00 [pubmed]
PHST- 2015/05/20 06:00 [medline]
PST - ppublish
SO  - Zhonghua Er Ke Za Zhi. 2015 Feb;53(2):140-2.