PMID- 31497069
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220410
IS  - 1755-8166 (Print)
IS  - 1755-8166 (Electronic)
IS  - 1755-8166 (Linking)
VI  - 12
DP  - 2019
TI  - Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples.
PG  - 39
LID - 10.1186/s13039-019-0449-x [doi]
LID - 39
AB  - BACKGROUND: Pallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic 
      genetic disorder characterized by multi-malformations which is caused by the 
      presence of the extra isochromosome 12p. PKS is featured by the tissue-limited 
      mosaicism of the isochromosome 12p [i(12p)]. There were a wide spectrum of 
      prenatal ultrasound findings of PKS, which made it difficult to be found in first 
      or second trimester. Polyhydramnios, diaphragmatic hernia, and rhizomelic limb 
      shortening were the most common prenatal ultrasound abnormalities in PKS. This 
      study retrospectively analyzed the ultrasound findings and molecular cytogenetic 
      results of four PKS fetuses diagnosed by using cord blood samples. RESULTS: The 
      ultrasound anomalies of four PKS fetuses are described as follows: fetal 
      macrosomia, cerebral ventriculomegaly, increased NT thickness, rhizomelic limbs 
      shortening, polyhydramnios. Biparietal diameter (BPD), head circumference (HC), 
      abdominal circumference (AC), femur length (FL) measurements were above the mean 
      in three fetuses,while one fetus showed rhizomelic limbs shortening. Combined 
      with this study and previous literature, polyhydramnios was the most frequent 
      anomaly observed in prenatal ultrasound examination of PKS, which accounted for 
      48% (94/194). Fetal macrosomia was present in 15% (29/194), cerebral 
      ventriculomegaly in 13% (25/194), thickened nuchal fold in 9% (18/194), 
      rhizomelic limbs shortening in 26% (51/194). I(12p) was found in the karyotype 
      analysis of cultured cord blood lymphocytes and the mosaic ratios ranged from 2 
      to 5%. Single nucleotide polymorphisms array (SNP-array) results suggested that 
      the whole short arm of chromosome 12 was duplicated with 2~3 copies. Fluorescence 
      in situ hybridization (FISH) was performed to confirm the results of karyotype 
      and SNP-array. CONCLUSIONS: In case non-specific indicators such as fetal 
      macrosomia, polyhydramnios and rhizomelic limbs shortening are observed meanwhile 
      in prenatal ultrasound, targeted detection of PKS should be considered. In the 
      prenatal diagnosis of PKS, the combination of SNP-array and FISH with 
      conventional karyotype are the key to seek i(12p) and for precise diagnosis.
FAU - Wang, Ting
AU  - Wang T
AUID- ORCID: 0000-0002-9261-9016
AD  - 1Medical Genetic Center, Guangdong Women and Children Hospital, 521 Xingnan 
      Avenue, Panyu, Guangzhou, China. GRID: grid.459579.3
FAU - Ren, Congmian
AU  - Ren C
AD  - 1Medical Genetic Center, Guangdong Women and Children Hospital, 521 Xingnan 
      Avenue, Panyu, Guangzhou, China. GRID: grid.459579.3
FAU - Chen, Dan
AU  - Chen D
AD  - 2Ultrasound Diagnosis Department, Guangdong Women and Children Hospital, 521 
      Xingnan Avenue, Panyu, Guangzhou, China. GRID: grid.459579.3
FAU - Lu, Jian
AU  - Lu J
AD  - 1Medical Genetic Center, Guangdong Women and Children Hospital, 521 Xingnan 
      Avenue, Panyu, Guangzhou, China. GRID: grid.459579.3
FAU - Guo, Li
AU  - Guo L
AD  - 1Medical Genetic Center, Guangdong Women and Children Hospital, 521 Xingnan 
      Avenue, Panyu, Guangzhou, China. GRID: grid.459579.3
FAU - Zheng, Laiping
AU  - Zheng L
AD  - 1Medical Genetic Center, Guangdong Women and Children Hospital, 521 Xingnan 
      Avenue, Panyu, Guangzhou, China. GRID: grid.459579.3
FAU - Liu, Yuan
AU  - Liu Y
AD  - 1Medical Genetic Center, Guangdong Women and Children Hospital, 521 Xingnan 
      Avenue, Panyu, Guangzhou, China. GRID: grid.459579.3
FAU - Chen, Hanbiao
AU  - Chen H
AD  - 1Medical Genetic Center, Guangdong Women and Children Hospital, 521 Xingnan 
      Avenue, Panyu, Guangzhou, China. GRID: grid.459579.3
LA  - eng
PT  - Journal Article
DEP - 20190830
PL  - England
TA  - Mol Cytogenet
JT  - Molecular cytogenetics
JID - 101317942
PMC - PMC6717365
OTO - NOTNLM
OT  - Cord blood
OT  - Isochromosome 12p
OT  - Pallister-Killian syndrome
OT  - Prenatal diagnosis
OT  - Ultrasound findings
COIS- Competing interestsThe authors declare that they have no competing interests.
EDAT- 2019/09/10 06:00
MHDA- 2019/09/10 06:01
PMCR- 2019/08/30
CRDT- 2019/09/10 06:00
PHST- 2019/06/26 00:00 [received]
PHST- 2019/07/30 00:00 [accepted]
PHST- 2019/09/10 06:00 [entrez]
PHST- 2019/09/10 06:00 [pubmed]
PHST- 2019/09/10 06:01 [medline]
PHST- 2019/08/30 00:00 [pmc-release]
AID - 449 [pii]
AID - 10.1186/s13039-019-0449-x [doi]
PST - epublish
SO  - Mol Cytogenet. 2019 Aug 30;12:39. doi: 10.1186/s13039-019-0449-x. eCollection 
      2019.