ABSTRACT
There is a standard recommendation that chromosomes be obtained in any patient who presents with developmental delay (DD) or mental retardation (MR) regardless of whether or not they have dysmorphic features. Increasingly, if patients are physically well-formed, the option to perform a karyotype is questioned because of the presumed low yield of a chromosomal abnormality. We hypothesize that patients with DD/MR who are non-dysmorphic do not have abnormal chromosomes at a rate high enough to warrant obtaining a karyotype on all patients in this population. A retrospective analysis of patients with DD/MR who were non-dysmorphic was performed. The total number of subjects was 134. Of these, 120 patients were recommended to have high-resolution chromosomes performed, among whom seven were lost to follow-up. In the remaining 113 patients, all had normal karyotypes. Three subjects were found to have fragile X syndrome, accounting for 3% of the males. One subject had a pathological mutation in MECP2. Our yield of chromosome analysis in non-dysmorphic patients with DD/MR is less than that previously described. The role of array-comparative genomic hybridization (array-CGH) as an auxiliary or alternative procedure in this patient population will be discussed.
Subject(s)
Chromosome Aberrations , Developmental Disabilities/genetics , Intellectual Disability/genetics , Child , Developmental Disabilities/pathology , Female , Fragile X Syndrome/genetics , Humans , Intellectual Disability/pathology , Karyotyping , Male , Oligonucleotide Array Sequence Analysis , Retrospective StudiesABSTRACT
We observed a 46, XY infant with atrophy of the optic nerve, complex congenital heart disease including a double outlet right ventricle, hypoplasia of the right pulmonary artery and lung, eventration of the diaphragm, and ambiguous genitalia. The baby died of cardiac arrhythmias at 204 days. The pattern of malformations was compatible with pulmonary tract and pulmonary artery, agonadism, omphalocele, diaphragmatic defect, and dextrocardia (PAGOD) syndrome. The condition may resemble the malformation complex associated with developmental deficiency of vitamin A or retinoic acid, as described in animal models.
