RESUMO
A female infant with growth failure, microcephaly, hypertelorism, epicanthal folds, preauricular pit, congenital heart defect, hypotonia, and delayed development is reported. Trisomy 22 mosaicism (46,XX/47,XX,+22) was found in cultured skin fibroblasts but not in blood lymphocytes. Trisomy restricted to skin fibroblasts is uncommon.
Assuntos
Anormalidades Múltiplas/genética , Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 22 , Linfócitos/ultraestrutura , Mosaicismo , Trissomia , Feminino , Fibroblastos/ultraestrutura , Humanos , Lactente , CariotipagemRESUMO
A survey of the status of pediatric and neonatal care in a university general hospital was conducted for a 12-month period in order to define existing needs and plan for improved inpatient genetic management. The records of 218 patients with one of 22 specified disorders were reviewed to evaluate the nature of documented genetic considerations and formulated dispositions during hospitalization. The 22 clinical entities were classified as chromosomal, single-gene, polygenic, or possibly genetic. In 15.1 per cent of cases the need for genetic counseling was recognized and recorded on the patient's chart. Sixteen of the 218 records (7.3%) met the minimum criteria for a "genetic disposition." Suggestions for improving the hospital clinical management of patients with genetic disorders are presented.
