Partial trisomy 6q and bilateral retinal detachment

M. E M Pierpont; K. G. Maccarthy; W. H. Knobloch

doi:10.3109/13816818609004135

Partial trisomy 6q and bilateral retinal detachment

M. E M Pierpont
, K. G. Maccarthy
, W. H. Knobloch

Pediatric Genetics & Metabolism

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

12 Scopus citations

Abstract

An eight-year-old boy with trisomy 6q13 → q21 is described with growth retardation, severe mental retardation, unusual facies, cleft palate, joint contractures and bilateral retinal detachment. To the authors' knowledge, this is the first case in which such an association has been recorded.

Original language	English (US)
Pages (from-to)	175-180
Number of pages	6
Journal	Ophthalmic Paediatrics and Genetics
Volume	7
Issue number	3
DOIs	https://doi.org/10.3109/13816818609004135
State	Published - 1986

Publisher link

10.3109/13816818609004135

Find It

Find It at U of M Libraries

Cite this

@article{b321adb7b94f4c89b4b13717a40cd766,

title = "Partial trisomy 6q and bilateral retinal detachment",

abstract = "An eight-year-old boy with trisomy 6q13 → q21 is described with growth retardation, severe mental retardation, unusual facies, cleft palate, joint contractures and bilateral retinal detachment. To the authors' knowledge, this is the first case in which such an association has been recorded.",

author = "Pierpont, \{M. E M\} and Maccarthy, \{K. G.\} and Knobloch, \{W. H.\}",

year = "1986",

doi = "10.3109/13816818609004135",

language = "English (US)",

volume = "7",

pages = "175--180",

journal = "Ophthalmic Paediatrics and Genetics",

issn = "0167-6784",

publisher = "Aeolus Press",

number = "3",

}

TY - JOUR

T1 - Partial trisomy 6q and bilateral retinal detachment

AU - Pierpont, M. E M

AU - Maccarthy, K. G.

AU - Knobloch, W. H.

PY - 1986

Y1 - 1986

N2 - An eight-year-old boy with trisomy 6q13 → q21 is described with growth retardation, severe mental retardation, unusual facies, cleft palate, joint contractures and bilateral retinal detachment. To the authors' knowledge, this is the first case in which such an association has been recorded.

AB - An eight-year-old boy with trisomy 6q13 → q21 is described with growth retardation, severe mental retardation, unusual facies, cleft palate, joint contractures and bilateral retinal detachment. To the authors' knowledge, this is the first case in which such an association has been recorded.

UR - https://www.scopus.com/pages/publications/84907113841

UR - https://www.scopus.com/pages/publications/84907113841#tab=citedBy

U2 - 10.3109/13816818609004135

DO - 10.3109/13816818609004135

M3 - Article

C2 - 3561952

AN - SCOPUS:84907113841

SN - 0167-6784

VL - 7

SP - 175

EP - 180

JO - Ophthalmic Paediatrics and Genetics

JF - Ophthalmic Paediatrics and Genetics

IS - 3

ER -

Partial trisomy 6q and bilateral retinal detachment

Abstract

Publisher link

Find It

Other files and links

Fingerprint

Cite this