Clinical features and mental development of a child with a prenatally identified 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype.
We present the clinical features and growth and development of a child with a 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. She had microcephaly, prominent, posteriorly rotated ears, short palpebral fissures with an upward slant, a wide nasal bridge, a thin upper lip, and a short neck. In addition, she had complex congenital heart disease. Although there has been delay in growth and development, she has shown progress in both areas.
Department of Pediatrics, St Joseph's Hospital and Medical Center, Paterson, New Jersey 07503, USA.
R G
RG
Hutcheon
A
A
Mallik
M
M
Shaham
D000015:Abnormalities, Multiple / Q000235:genetics*; D000649:Amniocentesis; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002895:Chromosomes, Human, Pair 5; D019465:Craniofacial Abnormalities / Q000235:genetics; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D013771:Tetralogy of Fallot / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic