A region of homozygosity within 22q11.2 associated with congenital heart disease: Recessive DiGeorge/velocardiofacial syndrome? [3]

J. Henwood; C. Pickard; J. P. Leek; C. P. Bennett; Y. J. Crow; J. D R Thomson; M. Ahmed; K. G. Watterson; J. M. Parsons; E. Roberts; N. J. Lench

doi:10.1136/jmg.38.8.533

A region of homozygosity within 22q11.2 associated with congenital heart disease: Recessive DiGeorge/velocardiofacial syndrome? [3]

J. Henwood
, C. Pickard
, J. P. Leek
, C. P. Bennett
, Y. J. Crow
, J. D R Thomson
, M. Ahmed
, K. G. Watterson
, J. M. Parsons
, E. Roberts
, N. J. Lench

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

Original language	English
Pages (from-to)	533-536
Number of pages	3
Journal	Journal of Medical Genetics
Volume	38
Issue number	8
DOIs	https://doi.org/10.1136/jmg.38.8.533
Publication status	Published - 2001

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

genetics: Abnormalities, Multiple
Chromosome Deletion
genetics: Chromosomes, Human, Pair 22
Consanguinity
pathology: Craniofacial Abnormalities
genetics: DiGeorge Syndrome
Family Health
Fatal Outcome
genetics: Heart Defects, Congenital
Heterozygote
Homozygote
Humans
Infant
Infant, Newborn
Microsatellite Repeats
Pedigree
Phenotype
Syndrome

Access to Document

10.1136/jmg.38.8.533

Cite this

Henwood, J., Pickard, C., Leek, J. P., Bennett, C. P., Crow, Y. J., Thomson, J. D. R., Ahmed, M., Watterson, K. G., Parsons, J. M., Roberts, E., & Lench, N. J. (2001). A region of homozygosity within 22q11.2 associated with congenital heart disease: Recessive DiGeorge/velocardiofacial syndrome? [3]. Journal of Medical Genetics, 38(8), 533-536. https://doi.org/10.1136/jmg.38.8.533

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keywords = "genetics: Abnormalities, Multiple, Chromosome Deletion, genetics: Chromosomes, Human, Pair 22, Consanguinity, pathology: Craniofacial Abnormalities, genetics: DiGeorge Syndrome, Family Health, Fatal Outcome, genetics: Heart Defects, Congenital, Heterozygote, Homozygote, Humans, Infant, Infant, Newborn, Microsatellite Repeats, Pedigree, Phenotype, Syndrome",

author = "J. Henwood and C. Pickard and Leek, \{J. P.\} and Bennett, \{C. P.\} and Crow, \{Y. J.\} and Thomson, \{J. D R\} and M. Ahmed and Watterson, \{K. G.\} and Parsons, \{J. M.\} and E. Roberts and Lench, \{N. J.\}",

year = "2001",

doi = "10.1136/jmg.38.8.533",

language = "English",

volume = "38",

pages = "533--536",

journal = "Journal of Medical Genetics",

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T1 - A region of homozygosity within 22q11.2 associated with congenital heart disease: Recessive DiGeorge/velocardiofacial syndrome? [3]

AU - Henwood, J.

AU - Pickard, C.

AU - Leek, J. P.

AU - Bennett, C. P.

AU - Crow, Y. J.

AU - Thomson, J. D R

AU - Ahmed, M.

AU - Watterson, K. G.

AU - Parsons, J. M.

AU - Roberts, E.

AU - Lench, N. J.

PY - 2001

Y1 - 2001

KW - genetics: Abnormalities, Multiple

KW - Chromosome Deletion

KW - genetics: Chromosomes, Human, Pair 22

KW - Consanguinity

KW - pathology: Craniofacial Abnormalities

KW - genetics: DiGeorge Syndrome

KW - Family Health

KW - Fatal Outcome

KW - genetics: Heart Defects, Congenital

KW - Heterozygote

KW - Homozygote

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Microsatellite Repeats

KW - Pedigree

KW - Phenotype

KW - Syndrome

U2 - 10.1136/jmg.38.8.533

DO - 10.1136/jmg.38.8.533

M3 - Article

SN - 1468-6244

VL - 38

SP - 533

EP - 536

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 8

ER -