22q11 Deletion Syndrome and Limb Anomalies: Report on Two Brazilian Patients

Objective: To report on two Brazilian patients with chromosome 22q11 deletion who presented with velopharyngeal insufficiency, congenital heart anomalies, developmental delay, and limb anomalies. The pattern of limb anomalies in these patients, which range from ectrodactyly to limb synostosis, is very uncommon in 22q11 deletion syndrome. Conclusion: These patients widen the spectrum of clinical signs of the 22q11 deletion syndrome and alert researchers to conduct additional investigation in patients with limb involvement with velopharyngeal insufficiency and/or cardiac anomalies, along with developmental delay.

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Anesthetic management of a child with chromosome 22q11 deletion syndrome

Pediatric Anesthesia ◽

10.1111/j.1460-9592.2005.01716.x ◽

2006 ◽

Vol 16 (4) ◽

pp. 454-457 ◽

Cited By ~ 4

Author(s):

HIROE YOTSUI-TSUCHIMOCHI ◽

KAZUO HIGA ◽

MATSUKO MATSUNAGA ◽

KEIICHI NITAHARA ◽

SHINJIRO SHONO

Keyword(s):

Anesthetic Management ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome ◽

Chromosome 22Q11

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Unambiguous molecular detections with multiple genetic approach for the complicated chromosome 22q11 deletion syndrome

BMC Medical Genetics ◽

10.1186/1471-2350-10-16 ◽

2009 ◽

Vol 10 (1) ◽

Cited By ~ 6

Author(s):

Chen Yang ◽

Cheng-Hung Huang ◽

Mei-Leng Cheong ◽

Kun-Long Hung ◽

Lung-Huang Lin ◽

...

Keyword(s):

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome ◽

Genetic Approach ◽

Chromosome 22Q11

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Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington’s Disease

American Journal of Psychiatry ◽

10.1176/appi.ajp.2017.17060638 ◽

2018 ◽

Vol 175 (5) ◽

pp. 400-407 ◽

Cited By ~ 6

Author(s):

Martilias Farrell ◽

Maya Lichtenstein ◽

James J. Crowley ◽

Dawn M. Filmyer ◽

Gabriel Lázaro-Muñoz ◽

...

Keyword(s):

Huntington's Disease ◽

Huntington’S Disease ◽

Developmental Delay ◽

Early Onset ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome ◽

Treatment Resistant ◽

Early Onset Dementia

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Altered functioning of the cingulate gyrus in two cases of chromosome 22q11 deletion syndrome

Psychiatry Research Neuroimaging ◽

10.1016/j.pscychresns.2004.08.003 ◽

2004 ◽

Vol 132 (3) ◽

pp. 273-278 ◽

Cited By ~ 6

Author(s):

Andreas Reif ◽

Andreas J. Fallgatter ◽

Ann-Christine Ehlis ◽

Klaus-Peter Lesch

Keyword(s):

Deletion Syndrome ◽

22Q11 Deletion ◽

Cingulate Gyrus ◽

22Q11 Deletion Syndrome ◽

Chromosome 22Q11

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An Unusual Case of Chromosome 22q11 Deletion Syndrome with Psychiatric Disorder, Hypoparathyroidism and Precocious Puberty

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem.2006.19.5.761 ◽

2006 ◽

Vol 19 (5) ◽

Author(s):

G. Karagüzel ◽

S. Akçurin ◽

S. Yakut ◽

I. Bircan

Keyword(s):

Psychiatric Disorder ◽

Precocious Puberty ◽

Unusual Case ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome ◽

Chromosome 22Q11

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Macrothrombocytopenia as diagnosis predictor of 22q11 deletion syndrome among patients with congenital heart defects

American Journal of Medical Genetics Part A ◽

10.1002/ajmg.a.36531 ◽

2015 ◽

Vol 167 (6) ◽

pp. 1406-1408 ◽

Cited By ~ 2

Author(s):

Patrícia Trevisan ◽

Sílvia Barbosa ◽

Graziela Sperotto ◽

Caroline Costi ◽

Reinaldo L. de Omena Filho ◽

...

Keyword(s):

Congenital Heart Defects ◽

Congenital Heart ◽

Heart Defects ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome

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Evidence That the Association Between Hypernasality and 22q11 Deletion Syndrome Still Goes Undetected: A Case Study

American Journal of Speech-Language Pathology ◽

10.1044/1058-0360.0903.197 ◽

2000 ◽

Vol 9 (3) ◽

pp. 197-201

Author(s):

Irit Spierer Greenberg ◽

Robert C. Fifer

Keyword(s):

Speech Intelligibility ◽

Velopharyngeal Insufficiency ◽

Deletion Syndrome ◽

22Q11 Deletion ◽

22Q11 Deletion Syndrome ◽

Limited Perspective ◽

Care Specialist ◽

Common Etiology ◽

The Individual

This manuscript presents a case study that underscores the need for increasing awareness that hypernasality, velopharyngeal insufficiency, and a number of other anomalies may be related through the common etiology of 22q11 deletion syndrome. The child presented here has a long-standing history of cardiac defects, hypernasality, poor speech intelligibility, and other anomalies. The variety of symptoms, occurring over a relatively broad time span, caused the family to seek several individual specialists on separate occasions. A major factor influencing this case was the absence of communication between the various specialists. Each health care specialist treated the child based on the limited perspective of the individual discipline, missing the fundamental etiology of the child’s disorders. It was not until the diagnosis of 22q11 deletion syndrome was established that successful, coordinated treatment of the disorder was realized.

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