ABSTRACT
Complex glycerol kinase deficiency is a contiguous gene syndrome consisting of a deletion of the glycerol kinase locus, together with the genes for adrenal hypoplasia congenita or Duchenne muscular dystrophy or both. We describe an infant with complex glycerol kinase deficiency and mildly dysmorphic features similar to those seen in other patients, including an "hourglass" appearance of the middle of the face; hypertelorism; rounded palpebral fissures; esotropia; wide, flattened earlobes; and a downturned mouth. The combination of medical history and characteristic facies should prompt the request for specific laboratory tests diagnostic for this potentially treatable condition.
Subject(s)
Adrenal Insufficiency/genetics , Face/abnormalities , Glycerol Kinase/deficiency , Glycerol Kinase/genetics , Muscular Dystrophies/genetics , Adrenal Insufficiency/congenital , Adrenal Insufficiency/diagnosis , Adrenal Insufficiency/therapy , Humans , Infant, Newborn , Male , Muscular Dystrophies/congenital , Muscular Dystrophies/diagnosis , Muscular Dystrophies/therapy , Phenotype , SyndromeSubject(s)
Dysgerminoma/complications , Eye Abnormalities , Gonadal Dysgenesis/complications , Ovarian Neoplasms/complications , Dysgerminoma/pathology , Female , Heart Septal Defects, Atrial/complications , Heart Septal Defects, Atrial/diagnosis , Humans , Infant, Newborn , Ovarian Neoplasms/pathology , SyndromeABSTRACT
Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced translocation resulting in partial monosomy of 17p13. A review of the literature revealed five additional patients in three families, who had Miller-Dieker syndrome and an abnormality of 17p. Thus, we propose that monosomy of distal 17p may be the cause of Miller-Dieker syndrome in some patients.
Subject(s)
Cerebral Cortex/abnormalities , Chromosome Aberrations/genetics , Chromosome Disorders , Chromosomes, Human, 16-18 , Abnormalities, Multiple/genetics , Adult , Cerebral Cortex/diagnostic imaging , Child, Preschool , Chromosome Banding , Female , Humans , Infant , Male , Microcephaly/genetics , Phenotype , Radiography , Seizures/genetics , Syndrome , Translocation, GeneticABSTRACT
We have seen three unrelated patients with the DiGeorge anomalad who also had the same deletion of chromosome 22 (pter leads to qll). In each, the remaining long arm material (qll leads to qter) was translocated to a different autosome. Our patients and a review of the literature, including a recent report of a family having four infants with the DiGeorge anomalad and the same deletion of chromosome 22 (de la Chapelle et al: Hum Genet 57:253, 1981), make a strong argument for at least some cases of the DiGeorge anomalad arising from a deletion of the pericentromeric region of chromosome 22.