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

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

UN SDGs

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

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.}",

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doi = "10.1136/jmg.38.8.533",

language = "English",

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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

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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

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ER -