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Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases.

Halder A, Jain M, Kabra M, Gupta N - Mol Cytogenet (2008)

Bottom Line: Mosaicism is also observed in buccal cells as well as urine cells.Parents were without any deletion.These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India. ashutoshhalder@gmail.com.

ABSTRACT
Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome.

No MeSH data available.


Related in: MedlinePlus

A is showing broad nose, square shaped tip of nose, small philtrum, hypertelorism, telecanthus, squint and low set ears. B is showing 22q11.2 FISH with deletion (most cells) and without deletion (arrow) on interphase cells obtained from peripheral blood.
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Figure 1: A is showing broad nose, square shaped tip of nose, small philtrum, hypertelorism, telecanthus, squint and low set ears. B is showing 22q11.2 FISH with deletion (most cells) and without deletion (arrow) on interphase cells obtained from peripheral blood.

Mentions: Physical examination revealed dysmorphic features & generalized hypotonia. He had short & broad nose, small mouth, down turn upper lip, hypertelorism, telecanthus and squint (Fig. 1A). Ears were low set, deficient in vertical diameter and dysplastic. Palate was high arched. Hands & fingers were long and slender. His weight was 9 kg and height was 75.5 cm (both below 3rd percentile). Head circumference was 45 cm (below -2SD/below 2nd percentile), however proportionate to height & weight. His developmental quotient was between 41–45% of expected. Ophthalmologic examination was revealed squint. Extensive cardiovascular work up including echocardiography revealed mild pulmonary stenosis, large malaligned ventricular septal defect, dilated aortic root and was suggestive of tetralogy of Fallot. CT scan of head & brain was normal. There was no hypocalcemia. Conventional cytogenetics from lymphocyte culture was normal.


Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases.

Halder A, Jain M, Kabra M, Gupta N - Mol Cytogenet (2008)

A is showing broad nose, square shaped tip of nose, small philtrum, hypertelorism, telecanthus, squint and low set ears. B is showing 22q11.2 FISH with deletion (most cells) and without deletion (arrow) on interphase cells obtained from peripheral blood.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2527005&req=5

Figure 1: A is showing broad nose, square shaped tip of nose, small philtrum, hypertelorism, telecanthus, squint and low set ears. B is showing 22q11.2 FISH with deletion (most cells) and without deletion (arrow) on interphase cells obtained from peripheral blood.
Mentions: Physical examination revealed dysmorphic features & generalized hypotonia. He had short & broad nose, small mouth, down turn upper lip, hypertelorism, telecanthus and squint (Fig. 1A). Ears were low set, deficient in vertical diameter and dysplastic. Palate was high arched. Hands & fingers were long and slender. His weight was 9 kg and height was 75.5 cm (both below 3rd percentile). Head circumference was 45 cm (below -2SD/below 2nd percentile), however proportionate to height & weight. His developmental quotient was between 41–45% of expected. Ophthalmologic examination was revealed squint. Extensive cardiovascular work up including echocardiography revealed mild pulmonary stenosis, large malaligned ventricular septal defect, dilated aortic root and was suggestive of tetralogy of Fallot. CT scan of head & brain was normal. There was no hypocalcemia. Conventional cytogenetics from lymphocyte culture was normal.

Bottom Line: Mosaicism is also observed in buccal cells as well as urine cells.Parents were without any deletion.These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Reproductive Biology, All India Institute of Medical Sciences, New Delhi, India. ashutoshhalder@gmail.com.

ABSTRACT
Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we describe two unrelated male children with clinical features consistent with 22q11.2 microdeletion syndrome characterized by cardiac defect, facial dysmorphism and developmental deficiency. One of the cases also had trigonocephaly. Interphase & metaphase FISH with 22q11.2 probe demonstrated mosaicism for hemizygous deletion of 22q11.2 region. Mosaicism is also observed in buccal cells as well as urine cells. Parents were without any deletion. These two cases represent rare cases of mosaic 22q11.2 microdeletion syndrome.

No MeSH data available.


Related in: MedlinePlus