Cri du Chat syndrome ( Distal 5P deletion syndrome)

Cri du Chat syndrome ( Distal 5P deletion syndrome) Relevant markers:

Choroid plexus cyst (CPC)HydropsHypertelorismMicrocephalyMicrognathia/retrognathiaSingle umbilical artery (SUA)Atrial septal defect (ASD)Clinodactyly 5th fingerFlat nasal bridgeHypoplasia/partial agenesis of vermisLow set ear/sNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygroma

Parents markers:

HeartHypoplasia/atrophy of cerebellumIntrauterine growth retardation (IUGR/SGA/FGR)VentriculomegalyAgenesis of corpus callosum (ACC)Ventricular septal defect (VSD)

Incidence:

1/15000 — 1/50000

Involved genes:
(gene — definition — chromosome)

5p15.33 deletion

Other online databases:

OMIM

References:

2001	J Med Genet	genotype-phenotype correlation of 80 patients (post-natal)	Read on PubMed
2008	Prenat Diagn	Case report + review	Read on PubMed
2009	Singapore Med J		Read on PubMed
2013	Taiwan J Obstet Gynecol		Read on PubMed