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10.1002/ajmg.1320590410.abs Five patients presenting with non‐ketotic hyperglycinemia in the neonatal period were treated with sodium benzoate to normalize plasma glycine levels. This therapy resulted in seizure reduction and a marked increase in wakefulness. Plasma carnitine deficiency was...
10.1002/ajmg.1320590409.abs We report on a 3‐month‐old girl with Miller‐Dieker syndrome resulting from a maternal full‐cryptic translocation t(10;17)(q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic...
10.1002/ajmg.1320590428.abs We investigated whether a woman's periconceptional use of a multivitamin containing folic acid was associated with a reduced risk for delivering offspring with a conotruncal heart defect or a limb deficiency. Data were derived from a population‐based case‐control...
10.1002/ajmg.1320590406.abs Fragile X syndrome, which affects 1 in 1,250 males, is the most common inherited condition causing mental retardation. Although carrier detection for the fragile X syndrome utilizing DNA has now been simplified, genetic counseling and the process of informing at‐risk...
10.1002/ajmg.1320590417.abs Sib‐pair linkage analysis of the quantitative trait, stature, in over 500 Pima Indians indicates that a genetic determinant of governing stature is located on chromosome 20. Analysis of 10 short tandem repeat polymorphisms localized this linkage to a 3.2cM region...
10.1002/ajmg.1320590402.abs We describe a term infant with facioauriculo‐vertebral “dysplasia” (Goldenhar sequence), hypertelorism, and mosaic trisomy 22: peripheral blood, 46, XY/47, XY, +22 (72%/28%); skin fibroblasts, 47, XY, +22 (100%). This is the second report of Goldenhar anomaly...
10.1002/ajmg.1320590403.abs This is a report of a patient with delayed puberty and a previously unreported translocation 46,X,−X,+der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich‐Turner syndrome. The relationship of this unbalanced translocation to the critical region...
10.1002/ajmg.1320590412.abs The occurrence of obstructive sleep apnea (OSA) in achondroplasia has been linked to brain stem compression. Overnight sleep studies (11 subjects) and somatosensoryevoked potentials (SEP's, 10 subjects) were recorded before and after conventional treatment of OSA in...
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