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.
Rossi
Massimiliano
M
Department of Pediatrics, Federico II University, Naples, Italy.
Di Micco
Pasqua
P
Perone
Lucia
L
De Brasi
Daniele
D
Guzzetta
Vito
V
Andreucci
Maria Vittoria
MV
Vega
Giovanna Roberta
GR
Marzano
Maria Grazia
MG
Iaccarino
Emilia
E
Andria
Generoso
G
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