A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation

M. J. van den Boogaard; J. de Pater; R. C. Hennekam

A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation

M. J. van den Boogaard, J. de Pater, R. C. Hennekam

Other Departments

Research output: Contribution to journal › Article › Academic › peer-review

10 Citations (Scopus)

Abstract

A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The pertinent literature on both partial trisomy 9 and partial trisomy 16q is reviewed. All cases with partial trisomy 9 were either de novo or the result of a maternal translocation, possibly indicating the influence of imprinting on this chromosomal abnormality. The relationship between the laryngeal atresia and other features in the patient and the chromosome anomalies remains uncertain

Original language	English
Pages (from-to)	83-91
Journal	Genetic counseling (Geneva, Switzerland)
Volume	2
Issue number	2
Publication status	Published - 1991

Cite this

@article{fc5ecaee17e94592a2e9e1ba25cdb8f0,

title = "A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation",

abstract = "A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The pertinent literature on both partial trisomy 9 and partial trisomy 16q is reviewed. All cases with partial trisomy 9 were either de novo or the result of a maternal translocation, possibly indicating the influence of imprinting on this chromosomal abnormality. The relationship between the laryngeal atresia and other features in the patient and the chromosome anomalies remains uncertain",

author = "{van den Boogaard}, {M. J.} and {de Pater}, J. and Hennekam, {R. C.}",

year = "1991",

language = "English",

volume = "2",

pages = "83--91",

journal = "Genetic counseling (Geneva, Switzerland)",

issn = "1015-8146",

publisher = "Editions Medecine et Hygiene",

number = "2",

}

TY - JOUR

T1 - A case with laryngeal atresia and partial trisomy 9 due to maternal 9;16 translocation

AU - van den Boogaard, M. J.

AU - de Pater, J.

AU - Hennekam, R. C.

PY - 1991

Y1 - 1991

N2 - A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The pertinent literature on both partial trisomy 9 and partial trisomy 16q is reviewed. All cases with partial trisomy 9 were either de novo or the result of a maternal translocation, possibly indicating the influence of imprinting on this chromosomal abnormality. The relationship between the laryngeal atresia and other features in the patient and the chromosome anomalies remains uncertain

AB - A newborn with a partial trisomy 9 and a partial trisomy 16q is described. The child died shortly after birth because of laryngeal atresia. The chromosome anomaly was the result of a 3:1 segregation of a maternal translocation t(9;16) (q22;q24). The pertinent literature on both partial trisomy 9 and partial trisomy 16q is reviewed. All cases with partial trisomy 9 were either de novo or the result of a maternal translocation, possibly indicating the influence of imprinting on this chromosomal abnormality. The relationship between the laryngeal atresia and other features in the patient and the chromosome anomalies remains uncertain

M3 - Article

C2 - 1781959

SN - 1015-8146

VL - 2

SP - 83

EP - 91

JO - Genetic counseling (Geneva, Switzerland)

JF - Genetic counseling (Geneva, Switzerland)

IS - 2

ER -