Cri-du-chat syndrome: clinical profile and prenatal diagnosis.
Prenatal diagnosis of cri-du-chat syndrome is described in 2 pregnancies. In Case 1, the mother was a balanced translocation carrier and had 2 previously affected off springs. Prenatal diagnosis by chorion villus sampling and cordocentesis was successful in diagnosing an affected conceptus and the pregnancy was electively terminated. Case 2 was referred for nonimmune foetal hydrops and cordocentesis revealed deletion 5p. This second case was noteworthy for the fact that deletion 5p has not been reported to cause foetal hydrops.
Tullu
M S
MS
Department of Paediatrics, Seth G.S. Medical College, Mumbai.
Muranjan
M N
MN
Sharma
S V
SV
Sahu
D R
DR
Swami
S R
SR
Deshmukh
C T
CT
Bharucha
B A
BA
D002895:Chromosomes, Human, Pair 5; D003410:Cri-du-Chat Syndrome / Q000175:diagnosis* / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis