Deletion of short arm of 5th chromosome is___ syndrome
Ans. c (Cri du chat) (Ref. Harrison's Internal medicine 17th edition, p. 412; Robbin's pathology 7th edition, p. 177)Cri-du-chat syndrome: Congenital microdeletion of short arm of chromosome 5 (46, XX or XY, 5p-). Findings: microcephaly, moderate to severe intellectual disability, high-pitched crying/mewing, epicanthal folds, cardiac abnormalities (VSD).Location of diseases on chromosomesDiseasesDeletionWolf-hirschorn syndrome4p-Cridu chat5p-DiGeorge syndrome22q-Cat-cry syndrome22p-Miller-Dieker17p-a-thalassemia16p -Angelman Syndrome15q - (angel ... maternal Mama)Prader-Willi Syndrome15q - (paternal .... P .... Papa)Retinoblastoma13q 14 -Beckwith-Wiedemann syndrome11 pl5 -WAGAR11 pl3 -Down's syndromeTrisomy 21PatauTrisomy 13Edwards syndromeTrisomy 18Educational Points:22q 11 deletion associated with high incidence of schizophrenia (Harrison's 17th edition, p. 2075; Robbins, 178)TrisomyCardinal featuresTrisomy 13 (Patau syndrome)# Auricular deformities# Microcephaly# Arrhinencephaly# Inner ear anomalies# Ocular anomalies# Hypertelorism# Cleft lip and palate# VSD# Simian creaseTrisomy 18 (Edward syndrome)# Auricular deformities# Inner ear anomalies# Ptosis of eyelids# Micrognathia# Flexion deformities# Mental retardationTrisomy 21 (Down's syndrome)# Auricular deformities# Hypertelorism# Epicanthal fold# Protruding tongue# High arched palate# Inner ear anomalies# Cardiovascular defects# Mental retardation
Edward
Patau
Cri-Du-Chat
Down's
Genetics