Prenatal Diagnosis of Hereditary Biochemical Disorders of Metabolism

Milunsky, Aubrey

doi:10.1007/978-1-4684-3438-5_7

Cited by 8 publications

(3 citation statements)

References 1,079 publications

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“…Although tetraploidy mosaicism appears to be very rare 12 , it may occur with a wide variation of congenital anomalies and different degrees of growth and mental retardation 13 . The present case had some signs also found in other cases of tetraploid/diploid mosaicism: long eyelashes, mandibular retrognathia and highly arched palate.…”

Section: Discussionmentioning

confidence: 99%

Generalized aggressive periodontitis in a child with 92, XXYY / 46,XY mosaicism: report of a second case

Olgun-Erdemir,

Yildirim,

Karşiyaka

2010

Turk J Pediatr

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The present case report describes the oral features of tetraploid/diploid mosaicism. An 11-year-old boy with severe periodontal destruction is presented in this report. He was examined clinically, radiologically, immunologically, and genetically. Significant edema of the gingiva, severe sulcular bleeding on probing and mobility of many teeth were detected on intraoral examination. There was severe generalized maxillary and mandibular bone loss as determined by radiological examination. He was diagnosed as generalized aggressive periodontitis. The cytogenetic examination revealed 92,XXYY (4%) / 46,XY (96%) karyotype indicating tetraploid/diploid mosaicism. Nonsurgical periodontal therapy was applied and he is currently under a routine follow-up period. In this report, the oral characteristics of tetraploid/diploid mosaicism are described. Dental practitioners should see these patients in some distinct periods, because tetraploid/diploid mosaicism subjects may have aggressive periodontitis.

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Section: Discussionmentioning

confidence: 99%

Generalized aggressive periodontitis in a child with 92, XXYY / 46,XY mosaicism: report of a second case

Olgun-Erdemir,

Yildirim,

Karşiyaka

2010

Turk J Pediatr

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“…Methods for obtaining skin and amniotic fluid samples have been described previously (12,13). The cells from these materials were cultured according to previously published procedures (13).…”

Section: Cell Culturementioning

confidence: 99%

High Performance Liquid Chromatography for the Detection of Homozygotes and Heterozygotes of Niemann-Pick Disease

Jungalwala

Milunsky

1978

Pediatr Res

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“…Since enzymes in amniotic fluid may be of fetal and maternal origin (Milunsky, 1979), the definitive diagnosis of biotindase deficiency in the fetus depends on the determination of enzyme activity in extracts of amniotic fluid cells. These results add another disorder to the growing list of inherited metabolic disorders for which prenatal diagnostic tests are available (Milunsky, 1979…”

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confidence: 99%