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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 & short nose, small moth, wide philtrum, thin upper lip, hypertelorism, telecanthus, upward slanting almond shaped eyes, low set ears and forehead prominence. B is CT scan of skull showing fusion of metopic suture. C is showing 22q11.2 FISH on lymphocytes (metaphase & interphase cells) without and with deletions (arrow).
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Figure 2: A is showing broad & short nose, small moth, wide philtrum, thin upper lip, hypertelorism, telecanthus, upward slanting almond shaped eyes, low set ears and forehead prominence. B is CT scan of skull showing fusion of metopic suture. C is showing 22q11.2 FISH on lymphocytes (metaphase & interphase cells) without and with deletions (arrow).

Mentions: Physical examination revealed dysmorphic features & generalized hypotonia. Most prominent feature was trigonocephaly with metopic prominence leading to forehead prominence. His head circumference was 45 cm (below -2 SD/below 2nd percentile). He had short & broad nose, small mouth, wide philtrum, thin upper lip, hypertelorism, telecanthus and upward slanting almond shaped eyes (Fig. 2A). Ears were low set. Ophthalmologic & auditory examination revealed no abnormality. He had central cyanosis and significant clubbing of fingers. Extensive cardiovascular work up including echocardiography was suggestive of tetralogy of Fallot with reversal of flow. An X ray skull and CT scan (Fig. 2B) of head & brain was consistent with craniosynostosis (due to premature metopic suture fusion). 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 & short nose, small moth, wide philtrum, thin upper lip, hypertelorism, telecanthus, upward slanting almond shaped eyes, low set ears and forehead prominence. B is CT scan of skull showing fusion of metopic suture. C is showing 22q11.2 FISH on lymphocytes (metaphase & interphase cells) without and with deletions (arrow).
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 2: A is showing broad & short nose, small moth, wide philtrum, thin upper lip, hypertelorism, telecanthus, upward slanting almond shaped eyes, low set ears and forehead prominence. B is CT scan of skull showing fusion of metopic suture. C is showing 22q11.2 FISH on lymphocytes (metaphase & interphase cells) without and with deletions (arrow).
Mentions: Physical examination revealed dysmorphic features & generalized hypotonia. Most prominent feature was trigonocephaly with metopic prominence leading to forehead prominence. His head circumference was 45 cm (below -2 SD/below 2nd percentile). He had short & broad nose, small mouth, wide philtrum, thin upper lip, hypertelorism, telecanthus and upward slanting almond shaped eyes (Fig. 2A). Ears were low set. Ophthalmologic & auditory examination revealed no abnormality. He had central cyanosis and significant clubbing of fingers. Extensive cardiovascular work up including echocardiography was suggestive of tetralogy of Fallot with reversal of flow. An X ray skull and CT scan (Fig. 2B) of head & brain was consistent with craniosynostosis (due to premature metopic suture fusion). 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