A female patient with partial duplication 22 (q13→qter)

Dagmar Wieczorek; Jürgen Holtvogt; Sabine Thonig; Gabriele Gillessen-Kaesbach

doi:10.1097/00019605-199810000-00010

A female patient with partial duplication 22 (q13→qter)

Dagmar Wieczorek^*, Jürgen Holtvogt, Sabine Thonig, Gabriele Gillessen-Kaesbach

^*Corresponding author for this work

Institute of Human Genetics

19 Citations (Scopus)

Abstract

We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.

Original language	English
Journal	Clinical Dysmorphology
Volume	7
Issue number	4
Pages (from-to)	289-294
Number of pages	6
ISSN	0962-8827
DOIs	https://doi.org/10.1097/00019605-199810000-00010
Publication status	Published - 1998

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Research Area: Medical Genetics

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10.1097/00019605-199810000-00010

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abstract = "We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.",

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T1 - A female patient with partial duplication 22 (q13→qter)

AU - Wieczorek, Dagmar

AU - Holtvogt, Jürgen

AU - Thonig, Sabine

AU - Gillessen-Kaesbach, Gabriele

PY - 1998

Y1 - 1998

N2 - We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.

AB - We report on a 9-month-old female patient with pre- and postnatal growth retardation, hypertelorism, bilateral cleft lip and palate, and a peripheral pulmonary stenosis. High resolution banding and fluorescent in situ hybridization (FISH) revealed a de novo partial trisomy 22q13-qter. We compare the clinical findings to published patients with this rare chromosomal aberration and discuss the chromosomal differential diagnosis. Facial features at first sight suggestive of Wolf-Hirschhorn syndrome may be an additional, previously undescribed clinical sign in some patients with partial trisomy 22q.

UR - https://www.scopus.com/pages/publications/0031796157

U2 - 10.1097/00019605-199810000-00010

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M3 - Journal articles

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JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

IS - 4

ER -

A female patient with partial duplication 22 (q13→qter)

Abstract

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