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Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.

Sedghi M, Abdali H, Memarzadeh M, Salehi M, Nouri N, Hosseinzadeh M, Nouri N - Genet Res Int (2015)

Bottom Line: A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients.For the first time in this study an atypical 0.6 Mb duplication is reported.Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.

View Article: PubMed Central - PubMed

Affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.

ABSTRACT
Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.

No MeSH data available.


Related in: MedlinePlus

Family pedigree of 3 patients with clinical features of 22q11.2 duplication syndrome. (a) Case 1, (b) Case 2, and (c) Case 3.
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Related In: Results  -  Collection


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fig1: Family pedigree of 3 patients with clinical features of 22q11.2 duplication syndrome. (a) Case 1, (b) Case 2, and (c) Case 3.

Mentions: The patient was a 4-year-old girl (IV-1), the first child of a nonconsanguineous marriage with healthy parents and no family history of abnormalities except for one case of cleft lip in the grandchild of her mother's aunt (Figure 1(a)). She was born by elective cesarean section after 38 weeks of uneventful pregnancy with no history of maternal exposure to teratogens. During neonatal period, she had one convulsion at the 12th day and after 50 days it was repeated. At birth, she presented soft palate cleft. Her birth weight, length, and occipitofrontal circumference (OFC) were within normal range. Her APGAR scores were 9/1′′ and 10/5′′. No signs of cyanosis or early jaundice were observed. Her EEG was abnormal. Her echocardiogram and ultrasound of brain and abdomen and brain CT scan show no abnormal findings. Visual and hearing acuity were within normal limits. A soft cleft surgery was performed at 7th month. Her initial motor development was good. She walked at 12 months and started to say one word and make some sounds. At the age of 2.5 years, the parents noticed a subsequent arrest of development and the patient was referred to our center for speech delay at the age of 3. She was in good general health; weight, height, and OFC were within normal range but she was restless and unable to speak. She presented with narrow forehead, prominent nasal bridge, bilateral epicanthal fold, periorbital fullness, deep set eye, upslanting palpebral fissures and upward eyebrow, full cheeks, micrognathia, and small tapering fingers. At the age of 4, she had heat intolerance, repetitive behavior, velopharyngeal insufficiency, learning disability, hyperactivity, and attention deficit. Early intervention for speech improvement showed gradual but not remarkable progress, so fluoroscopy was done. Duplication of LCR 22E-F was identified after MLPA analysis (Figure 2(a)). Her mother had the same duplication but without symptom, so it seems that she inherited this duplication from her mother. No other history was mentioned in family pedigree.


Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.

Sedghi M, Abdali H, Memarzadeh M, Salehi M, Nouri N, Hosseinzadeh M, Nouri N - Genet Res Int (2015)

Family pedigree of 3 patients with clinical features of 22q11.2 duplication syndrome. (a) Case 1, (b) Case 2, and (c) Case 3.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4660028&req=5

fig1: Family pedigree of 3 patients with clinical features of 22q11.2 duplication syndrome. (a) Case 1, (b) Case 2, and (c) Case 3.
Mentions: The patient was a 4-year-old girl (IV-1), the first child of a nonconsanguineous marriage with healthy parents and no family history of abnormalities except for one case of cleft lip in the grandchild of her mother's aunt (Figure 1(a)). She was born by elective cesarean section after 38 weeks of uneventful pregnancy with no history of maternal exposure to teratogens. During neonatal period, she had one convulsion at the 12th day and after 50 days it was repeated. At birth, she presented soft palate cleft. Her birth weight, length, and occipitofrontal circumference (OFC) were within normal range. Her APGAR scores were 9/1′′ and 10/5′′. No signs of cyanosis or early jaundice were observed. Her EEG was abnormal. Her echocardiogram and ultrasound of brain and abdomen and brain CT scan show no abnormal findings. Visual and hearing acuity were within normal limits. A soft cleft surgery was performed at 7th month. Her initial motor development was good. She walked at 12 months and started to say one word and make some sounds. At the age of 2.5 years, the parents noticed a subsequent arrest of development and the patient was referred to our center for speech delay at the age of 3. She was in good general health; weight, height, and OFC were within normal range but she was restless and unable to speak. She presented with narrow forehead, prominent nasal bridge, bilateral epicanthal fold, periorbital fullness, deep set eye, upslanting palpebral fissures and upward eyebrow, full cheeks, micrognathia, and small tapering fingers. At the age of 4, she had heat intolerance, repetitive behavior, velopharyngeal insufficiency, learning disability, hyperactivity, and attention deficit. Early intervention for speech improvement showed gradual but not remarkable progress, so fluoroscopy was done. Duplication of LCR 22E-F was identified after MLPA analysis (Figure 2(a)). Her mother had the same duplication but without symptom, so it seems that she inherited this duplication from her mother. No other history was mentioned in family pedigree.

Bottom Line: A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients.For the first time in this study an atypical 0.6 Mb duplication is reported.Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.

View Article: PubMed Central - PubMed

Affiliation: Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.

ABSTRACT
Misalignments of low-copy repeats (LCRs) located in chromosome 22, particularly band 22q11.2, predispose to rearrangements. A variety of phenotypic features are associated with 22q11.2 microduplication syndrome which makes it challenging for the genetic counselors to recommend appropriate genetic assessment and counseling for the patients. In this study, multiplex ligation probe dependent amplification (MLPA) analysis was performed on 378 patients with cleft lip and/or palate to characterize rearrangements in patients suspected of 22q11.2 microduplication and microdeletion syndromes. Of 378 cases, 15 were diagnosed with a microdeletion with various sizes and 3 with duplications. For the first time in this study an atypical 0.6 Mb duplication is reported. Illustration of the phenotypes associated with the microduplications increases the knowledge of phenotypes reported in the literature.

No MeSH data available.


Related in: MedlinePlus