Unbalanced translocation (3;5)(q26.1;p14): a clinical report.
A patient with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome had an unbalanced translocation (3;5)(q26.1;p14), causing partial 5p monosomy and partial 3q trisomy. The phenotype observed in this patient results from the combination of those described in the isolated dup(3q) and del(5p) syndromes. Some clinical features of this patient are shared by the Smith-Lemli-Opitz syndrome (SLOS), a well-known MCA/MR syndrome due to the deficiency of 7-dehydrocholesterol reductase (DHCR7). We review the previously reported cases of chromosomal anomalies with clinical features suggesting SLOS.
Department of Pediatrics, Federico II University, Naples, Italy.
Massimiliano
M
Rossi
Pasqua
P
Di Micco
Lucia
L
Perone
Daniele
D
De Brasi
Vito
V
Guzzetta
Maria Vittoria
MV
Andreucci
Giovanna Roberta
GR
Vega
Maria Grazia
MG
Marzano
Emilia
E
Iaccarino
Generoso
G
Andria
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D003937:Diagnosis, Differential; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology; D007621:Karyotyping; D008297:Male; D019082:Smith-Lemli-Opitz Syndrome / Q000235:genetics / Q000473:pathology; D014178:Translocation, Genetic