PMID- 37906154
OWN - NLM
STAT- MEDLINE
DCOM- 20231218
LR  - 20231218
IS  - 1003-9406 (Print)
IS  - 1003-9406 (Linking)
VI  - 40
IP  - 11
DP  - 2023 Nov 10
TI  - [Genetic analysis of a Chinese pedigree affected with overgrowth syndrome due to 
      a small supernumerary marker chromosome].
PG  - 1425-1429
LID - 10.3760/cma.j.cn511374-20220225-00126 [doi]
AB  - OBJECTIVE: To carry out genetic analysis for a Chinese pedigree affected with 
      intellectual disability and overgrowth due to a supernumerary marker chromosome 
      (sSMC). METHODS: A pedigree which had presented at Jiaxing Maternity and Child 
      Health Care Hospital on August 31, 2021 was selected as the study subject, for 
      which chromosomal karyotyping, single nucleotide polymorphism-based microarray 
      (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in 
      combination. RESULTS: SNP-array analysis showed that the proband and his sister 
      had both harbored a 16.1 Mb duplication which encompassed the critical region of 
      15q26 overgrowth syndrome. FISH confirmed that the proband was 
      47,XX,+neo(15)(qter-->q25.3:)mat, her mother was 
      47,XX,del(15)(q25.3:),+neo(15)(qter-->q25.3:), whilst her father was normal. 
      CONCLUSION: Application of multiple genetic techniques has facilitated 
      delineation of the origin of sSMC and reliable genetic counseling for this 
      pedigree.
FAU - Jin, Yuxia
AU  - Jin Y
AD  - Center of Prenatal diagnosis, Yiwu Maternity and Child Health Care Hospital, 
      Yiwu, Zhejiang 322015, China. jyx0805@163.com.
FAU - Li, Suping
AU  - Li S
LA  - chi
PT  - English Abstract
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  - Female
MH  - Humans
MH  - *Chromosomes
MH  - *East Asian People
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Pedigree
MH  - Polymorphism, Single Nucleotide
MH  - *Intellectual Disability/genetics
MH  - *Chromosome Duplication/genetics
MH  - Male
EDAT- 2023/10/31 12:42
MHDA- 2023/11/02 12:45
CRDT- 2023/10/31 11:12
PHST- 2023/11/02 12:45 [medline]
PHST- 2023/10/31 12:42 [pubmed]
PHST- 2023/10/31 11:12 [entrez]
AID - 940640244 [pii]
AID - 10.3760/cma.j.cn511374-20220225-00126 [doi]
PST - ppublish
SO  - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2023 Nov 10;40(11):1425-1429. doi: 
      10.3760/cma.j.cn511374-20220225-00126.