The level of 6‐phosphogluconate dehydrogenase (6‐PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub‐band p36.3 on chromosome 1

Steele, Mark W.; Wenger, Sharon L.; Geweke, L. O.; Golden, Wendy L.

doi:10.1111/j.1399-0004.1984.tb00463.x

Cited by 17 publications

(1 citation statement)

References 11 publications

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“…At that time he was noted to have deep‐set eyes, a prominent nasal bridge, large ears, and growth parameters that were at the 75th percentile. His case had been previously reported illustrating mapping of 6‐phosphogluconate dehydrogenase [Steele et al, 1984].…”

Section: Clinical Reportmentioning

confidence: 99%

Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

Dod

Bhardwaj

Hummel

et al. 2009

American J of Med Genetics Pt A

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We report on a case of a 25-year-old male with 1p36 deletion syndrome, who was diagnosed with left ventricular noncompaction (LVNC). The association of this rare chromosomal abnormality with LVNC is reported in the pediatric literature, but it has not previously been specifically reported in adults. It is important to diagnose this unclassified cardiomyopathy in the adult population with this chromosomal abnormality for appropriate management and treatment as highlighted in our case.

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Section: Clinical Reportmentioning

confidence: 99%

Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

Dod

Bhardwaj

Hummel

et al. 2009

American J of Med Genetics Pt A

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Monosomy 1p36.31–33→pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysis

et al. 1996

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A rare monosomy 1p36.31–33→pter was found in a child with physical anomalies, psycho‐motor retardation, and seizures. Cytogenetic investigation suggested an unbalanced translocation between 1p and an acrocentric chromosome, but the rearrangement was difficult to assess accurately using conventional chromosome banding techniques. The half‐cryptic translocation was further characterized using fluorescence in situ hybridization, and the aberrant chromosome 1 was shown to be a derivate of a paternal reciprocal translocation t(1;15)(p36.31–33;p11.2–12). The breakpoints on chromosome 1 and 15 were defined in detail using locus specific probes. The rearrangement did not include the region on chromosome 1p which previously has been suggested to predispose to the development of neuroblastoma in a case with a constitutional translocation. At 3 6/12 years, the patient has no clinical signs of this disease, which illustrates the prognostic significance of this investigation. © 1996 Wiley‐Liss, Inc.

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Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia

1997

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We report on a 4-year-old girl with obesity and hyperphagia whose peripheral blood cytogenetic analysis showed mosaicism for a deletion of band 1p36.33. Terminal 1p deletions are rarely reported and this patient represents the first identified case of mosaicism. Given the subtlety of the cytogenetic abnormality and the possibility of mosaicism, the incidence of such deletions has probably been underestimated. While a characteristic phenotype associated with this karyotypic abnormality was described recently, the present report highlights the additional clinical findings of obesity and hyperphagia and the overlap of manifestations with Prader-Willi syndrome.

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The level of 6‐phosphogluconate dehydrogenase (6‐PGD) activity in a patient with a 1p terminal deletion suggests that the gene locus is not distal to sub‐band p36.3 on chromosome 1

Cited by 17 publications

References 11 publications

Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

Monosomy 1p36.31–33→pter due to a paternal reciprocal translocation: Prognostic significance of FISH analysis

Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia

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