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Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families.

Huang L, Xie Y, Zhou Y, Luo Y, Huang X, Xu Z, Cai D, Fang Q - Exp Ther Med (2015)

Bottom Line: The patients had histories of two foetuses/infants with congenital heart defects.The underlying aetiology for the discordance in the phenotype in these patients is discussed.These observations provide additional data useful for patient counselling and guidelines for 22q11.2 clinical screening.

View Article: PubMed Central - PubMed

Affiliation: Fetal Medicine Centre, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.

ABSTRACT

The phenotypic variability associated with 22q11.2 deletion syndrome (22q11.2DS) is well known. In the present study, the cases of three unrelated adult patients with chromosome 22q11.2DS and nearly normal features are described, along with their reproductive histories. Chromosomal analysis with fluorescent in situ hybridisation and genomic DNA analysis by microarrays were performed, as well as a clinical examination. The three patients were found to possess an identical breakpoint deletion at 22q11.2 by high-density whole-genome single nucleotide polymorphism microarray analysis. The patients had histories of two foetuses/infants with congenital heart defects. The underlying aetiology for the discordance in the phenotype in these patients is discussed. These observations provide additional data useful for patient counselling and guidelines for 22q11.2 clinical screening.

No MeSH data available.


Related in: MedlinePlus

Front and ear views of two patients (A) Patient one: A 31-year-old male with a long face, bulbous nose, broad mouth, thin upper lip and low-set dysplastic ears. (B) Patient three: A 39-year-old male with an bulbous nose and slightly high-set ears with no earlobes.
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f1-etm-09-03-0823: Front and ear views of two patients (A) Patient one: A 31-year-old male with a long face, bulbous nose, broad mouth, thin upper lip and low-set dysplastic ears. (B) Patient three: A 39-year-old male with an bulbous nose and slightly high-set ears with no earlobes.

Mentions: The father of the patient was 33 years old and his mother was 30 years old at the time of his birth. The patient had a middle school level of education and was frequently ill prior to primary school. His height was 173 cm and his weight was 70 kg (body mass index, 23.4 kg/m2). The blood pressure of the patient was 100/60 mmHg and his pulse was 80 bpm. His abdominal examinations were ordinary, and facial features included a long face, pharyngeal abnormalities (two uvulas), bulbous nose, broad mouth, thin upper lip and low-set, dysplastic ears (Fig. 1A).


Clinical and molecular cytogenetic studies of an unrecognised 22q11.2 deletion in three families.

Huang L, Xie Y, Zhou Y, Luo Y, Huang X, Xu Z, Cai D, Fang Q - Exp Ther Med (2015)

Front and ear views of two patients (A) Patient one: A 31-year-old male with a long face, bulbous nose, broad mouth, thin upper lip and low-set dysplastic ears. (B) Patient three: A 39-year-old male with an bulbous nose and slightly high-set ears with no earlobes.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4316895&req=5

f1-etm-09-03-0823: Front and ear views of two patients (A) Patient one: A 31-year-old male with a long face, bulbous nose, broad mouth, thin upper lip and low-set dysplastic ears. (B) Patient three: A 39-year-old male with an bulbous nose and slightly high-set ears with no earlobes.
Mentions: The father of the patient was 33 years old and his mother was 30 years old at the time of his birth. The patient had a middle school level of education and was frequently ill prior to primary school. His height was 173 cm and his weight was 70 kg (body mass index, 23.4 kg/m2). The blood pressure of the patient was 100/60 mmHg and his pulse was 80 bpm. His abdominal examinations were ordinary, and facial features included a long face, pharyngeal abnormalities (two uvulas), bulbous nose, broad mouth, thin upper lip and low-set, dysplastic ears (Fig. 1A).

Bottom Line: The patients had histories of two foetuses/infants with congenital heart defects.The underlying aetiology for the discordance in the phenotype in these patients is discussed.These observations provide additional data useful for patient counselling and guidelines for 22q11.2 clinical screening.

View Article: PubMed Central - PubMed

Affiliation: Fetal Medicine Centre, Department of Obstetrics and Gynaecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong 510080, P.R. China.

ABSTRACT

The phenotypic variability associated with 22q11.2 deletion syndrome (22q11.2DS) is well known. In the present study, the cases of three unrelated adult patients with chromosome 22q11.2DS and nearly normal features are described, along with their reproductive histories. Chromosomal analysis with fluorescent in situ hybridisation and genomic DNA analysis by microarrays were performed, as well as a clinical examination. The three patients were found to possess an identical breakpoint deletion at 22q11.2 by high-density whole-genome single nucleotide polymorphism microarray analysis. The patients had histories of two foetuses/infants with congenital heart defects. The underlying aetiology for the discordance in the phenotype in these patients is discussed. These observations provide additional data useful for patient counselling and guidelines for 22q11.2 clinical screening.

No MeSH data available.


Related in: MedlinePlus