Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation

Ag, Hunter; Dl, Rimoin; Um, Koch; Macdonald, G. J.; Dm, Cox; Rs, Lachman; Adomian, G.

doi:10.1002/ajmg.1320210320

Cited by 26 publications

(12 citation statements)

References 8 publications

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“…In our case, the karyotype was normal: moreover, a brain malformation is not described in this form. The duplication 16 p. with chon drodysplasia punctata can also be excluded on the basis of a normal karyotype [ 11 ]. A study of the activities of peroxi somal enzymes was not done as our case did not seem to belong to the peroxisomal disease category [12.…”

Section: Discussionmentioning

confidence: 99%

Lethal Course of X-Linked Dominant Chondrodysplasia punctata in a Male Newborn

Raeve¹,

Song²,

Dobbeleer³

et al. 1989

Dermatology

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We report a newborn with some manifestations of chondrodysplasia punctata. Additional abnormalities were hydrocephalus, bilateral syndactyly of the fourth and fifth fingers and toes, absence of the middle phalanx of all toes, hypoplasia of the second and third phalanges of all fingers and cryptorchidism.This observation suggests that we are possibly dealing with a rare male case of X-linked dominant chondrodysplasia punctata.

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Section: Discussionmentioning

confidence: 99%

Lethal Course of X-Linked Dominant Chondrodysplasia punctata in a Male Newborn

Raeve¹,

Song²,

Dobbeleer³

et al. 1989

Dermatology

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“…Two patients with full trisomy of ( 16)(pter >p 13) due to familial trans location were reported in the literature; one was bom underweight (birthweight at term 2,280 g [11] while the other had a birthweight within the normal range (3,300 g at term) [12], Our propositus has both maternal UPD and mosaic trisomy for ( 16)(ptcr->p 13). His pattem of congenital anomalies resembles patients with full or partial trisomy 16p.…”

Section: Upd 16 and Trisomy 16pmentioning

confidence: 99%

Trisomy First, Translocation Second, Uniparental Disomy and Partial Trisomy Third: A New Mechanism for Complex Chromosomal Aneuploidy

Schinzel¹,

Kotzot²,

Brecevic³

et al. 1997

Eur J Hum Genet

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“…Since it has never been described in liveborns, it appears that complete trisomy 16 is non-viable. Reports of liveborn infants with duplication of 16p or 16q indicate that both are associated with limited postnatal survival (Roberts & Duckett 1918, Buckton & Barr 1981, McMorrow et al 1984, Nevin et al 1983, Hunter et al 1985. We report two siblings with partial duplication of 16q due to a maternal balanced translo-cation (6;16), and compare the findings in these infants with those previously reported in the literature.…”

mentioning

confidence: 56%

Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review

et al. 1987

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Two siblings with a partial duplication 16q, born to a woman with a balanced translocation (6; 16), are described. The first infant died at 8 weeks of age; the second died at 4 months. Fifteen other cases of duplications involving 16q have been reported, all of them derived from a balanced parental translocation. The most frequent physical findings have included dysmorphic facies characterized by high forehead, prominent nose, antimongoloid slant, malformed ears, and micrognathia, as well as flexion contractures of the joints, deformity of the feet, and genital hypoplasia in the male. Anorectal, intestinal and cardiac malformations were less frequent findings. Most of the affected infants died at ages ranging from 8 days to 6 months. The few with longer survival (up to 6 years) had a shorter, more distal segment duplication of chromosome 16. Although intrauterine growth retardation and microcephaly were not always present at birth, most of the infants had postnatal growth failure. The phenotypic and clinical findings of the two infants in this report are compared with those of previously reported cases, from which there appears to be correlation of the length of the 16q duplication with clinical phenotype and survivals.

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Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocation

Cited by 26 publications

References 8 publications

Lethal Course of X-Linked Dominant Chondrodysplasia punctata in a Male Newborn

Lethal Course of X-Linked Dominant Chondrodysplasia punctata in a Male Newborn

Trisomy First, Translocation Second, Uniparental Disomy and Partial Trisomy Third: A New Mechanism for Complex Chromosomal Aneuploidy

Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review

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