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.
Hutcheon
R G
RG
Department of Pediatrics, St Joseph's Hospital and Medical Center, Paterson, New Jersey 07503, USA.
Mallik
A
A
Shaham
M
M
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