A NEW OBSERVATION OF 13q DELETION SYNDROME: SEVERE UNDESCRIBED FEATURES.
A new observation of 13q deletion syndrome: severe undescribed features: 13q deletion syndrome is characterized by a wide phenotypic spectrum resulting from a partial deletion-of the long arm of chromosome 13. It consists predominantly of mental and motor retardation, craniofacial dysmorphia, growth retardation, and several congenital malformations. We present a new case with 13q deletion syndrome phenotypically characterized by severe major malformations, some of them still undescribed, consisting of left diaphragmatic hernia, right pulmonary sequestration, hypoplastic left heart syndrome, pancreatic agenesis, polysplenia, and catastrophic central nervous system malformations: semilobar holoprosencephaly, occipital myelomeningocele, partial agenesis of the corpus callosum and agenesis of olfactory bulbs. Fluorescence in situ hybridization technique using the probe LSI D13S319 (13q1l4) SO/ LSI 13q34 SG determined partial monosomy of chromosome 13 in 39/100 cells (mosaicism).
E
E
Garcia-Rodriguez
E
E
Garcia-Garcia
A
A
Perez-Sanchez
A
A
Pavon-Delgado
D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000473:pathology*; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics* / Q000473:pathology