18p deletion syndrome with a 45, XY, t (14; 18) (p11;q11.2), -18, karyotype.
A dysmorphic male child of 8 months age presented with microphthalmia, micrognathia, hypertelorism, wide anterior fontanelles, large forehead, short neck, prominent ears, macrotestis and delayed developmental milestones. The patient presented with generalised seizures hydrocephalaus and Coarctation of aorta (Pre subclavian). He also had mild hypocalcaemia with normal renal function. Cytogenetic study revealed 18p(-) picture due to translocation between 14 p & 18q. Since the spectrum of clinical expression is similar to that is seen in 18p(-) syndrome it is suggested that not only whole of 18p but part of chromosome no. 18 proximal to 18 q 11.2 may also be involved in this phenotype.
Rao
V B
VB
Institute of Immunohaematology (ICMR), MRCP (UK), MRCP (Ire), FRC Path (London), Deputy Director, 13th Floor, New Multistoreyed Bldg, KEM Hospital Campus, Parel, Mumbai-400 012, Mumbai, India.
Kerketta
L
L
Korgaonkar
S
S
Ghosh
K
K
Mohanty
D
D
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004830:Epilepsy, Tonic-Clonic; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D013737:Testis / Q000002:abnormalities