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Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.

Meloni VA, Takeno SS, Pilla AL, de Mello CB, Melaragno MI, Kulikowski LD - Mol Cytogenet (2014)

Bottom Line: Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype.Compared to patients from the literature, the patient's phenotype is more compatible to the 1q32 duplication's clinical phenotype, although some clinical features may also be associated to the deleted segment on chromosome 11.This is the smallest 11q terminal deletion ever reported and the first association between 1q32.3 duplication and 11q25 deletion in the literature.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

ABSTRACT

Background: Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype.

Case presentation: We report a clinical and cytogenomic study of a patient with multiple congenital anomalies, heart defect, neuromotordevelopment delay, intellectual disability, who presents partial trisomy 1q32 and partial monosomy 11q25 inherited from a paternal balanced translocation identified by chromosome microarray and fluorescence in situ hybridization.

Conclusion: Compared to patients from the literature, the patient's phenotype is more compatible to the 1q32 duplication's clinical phenotype, although some clinical features may also be associated to the deleted segment on chromosome 11. This is the smallest 11q terminal deletion ever reported and the first association between 1q32.3 duplication and 11q25 deletion in the literature.

No MeSH data available.


Related in: MedlinePlus

Patient at 1 year and 10 months (a) and 14 years of age (b) showing the facial dysmorphic features; Partial G-banding karyotype showing paternal balanced translocation (c); Partial FISH metaphase with WCP1 probe showing the patient’s der(11) with the duplicated segment (d); BAC-FISH results showing the breakpoint delineation in 1q32.3 and 11q25 regions in father’s metaphases (e and f); Array result for duplication (blue bar) 1q32.(212,508,954-249,224,376) × 3 (g); and deletion (red bar) 11q25(132,927,027-134,944,770) × 1 (h).
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Figure 1: Patient at 1 year and 10 months (a) and 14 years of age (b) showing the facial dysmorphic features; Partial G-banding karyotype showing paternal balanced translocation (c); Partial FISH metaphase with WCP1 probe showing the patient’s der(11) with the duplicated segment (d); BAC-FISH results showing the breakpoint delineation in 1q32.3 and 11q25 regions in father’s metaphases (e and f); Array result for duplication (blue bar) 1q32.(212,508,954-249,224,376) × 3 (g); and deletion (red bar) 11q25(132,927,027-134,944,770) × 1 (h).

Mentions: The Research Ethics Committee of UNIFESP approved this study, and consent was obtained from the patient’s parents. The male patient is the first child of a young non-consanguineous and healthy couple and has one normal sister and one paternal half-sister. He was born at term by vaginal delivery after a pregnancy with hypertension and a bleeding episode, with a birth weight of 1,980 g (10th centile), length 42 cm (10th-25th centile), and occipital frontal circumference (OFC) unavailable. He stayed 11 days in the nursery because of low birth weight and dysmorphisms. Hematologic abnormalities were not observed during the neonatal period. At the age of three months, a computerized cranial tomography showed hydrocephaly and at age of six months, the echocardiography showed pulmonary stenosis. At one year old, he had endocarditis, being hospitalized for 18 days. He also had three episodes of bronchopneumonia by the age of two years. At one year and 10 months old, he presented height of 72 cm (<5th centile), weight of 7,200 g (<5th centile), OFC of 47 cm (10th-25th centile). The clinical evaluation revealed: microsomia, relative macrocephaly, brachycephaly, downslanted palpebral fissures, long and marked eyelashes, synophrys, large ears, hipoplastic ala nasi, prominent nose, high nasal bridge, long and smooth philtrum, abnormal tooth implantation, high palate, forehead abnormal hair implantation, hirsutism, pectus carinatum, thoracic asymmetry, vertical palmar creases one on the left hand and two on the right, overlying position of toes, micropenis and bilateral cryptorchidism (Figure 1a). He evolved with moderate development and speech delay, and had a few convulsion episodes at age of two years. A new cardiac evaluation showed atrial septal defect, which was surgically corrected at age of 5 years. The clinical evaluation at age of ten years showed: height 119 cm (<5th centile), weight 25 kg (5th centile) and OFC 50.5 cm (50th centile). At this time, the patient additionally presented muscular hypotonia and presented with moderate intellectual disability, aggressive and hyperactive behavior, limited verbal language repertoire and dysarthria. At age of 14 years, he showed height 125 cm (<5th centile), weight 26 kg (5th centile) and OFC 52.5 cm (50th centile) (Figure 1b). At this time, the patient underwent an assessment of intellectual and neuropsychological skills and had a very limited verbal repertoire, but showed communicative intention, good eye contact and used some gestures to express his intentions. Other behavioral characteristics included mild psychomotor disabilities and lack of symbolic skills, indicating severe cognitive impairment. In daily life activities, according to the mother, he needs supervision.


Trisomy 1q32 and monosomy 11q25 associated with congenital heart defect: cytogenomic delineation and patient fourteen years follow-up.

Meloni VA, Takeno SS, Pilla AL, de Mello CB, Melaragno MI, Kulikowski LD - Mol Cytogenet (2014)

Patient at 1 year and 10 months (a) and 14 years of age (b) showing the facial dysmorphic features; Partial G-banding karyotype showing paternal balanced translocation (c); Partial FISH metaphase with WCP1 probe showing the patient’s der(11) with the duplicated segment (d); BAC-FISH results showing the breakpoint delineation in 1q32.3 and 11q25 regions in father’s metaphases (e and f); Array result for duplication (blue bar) 1q32.(212,508,954-249,224,376) × 3 (g); and deletion (red bar) 11q25(132,927,027-134,944,770) × 1 (h).
© Copyright Policy - open-access
Related In: Results  -  Collection

License 1 - License 2
Show All Figures
getmorefigures.php?uid=PMC4151026&req=5

Figure 1: Patient at 1 year and 10 months (a) and 14 years of age (b) showing the facial dysmorphic features; Partial G-banding karyotype showing paternal balanced translocation (c); Partial FISH metaphase with WCP1 probe showing the patient’s der(11) with the duplicated segment (d); BAC-FISH results showing the breakpoint delineation in 1q32.3 and 11q25 regions in father’s metaphases (e and f); Array result for duplication (blue bar) 1q32.(212,508,954-249,224,376) × 3 (g); and deletion (red bar) 11q25(132,927,027-134,944,770) × 1 (h).
Mentions: The Research Ethics Committee of UNIFESP approved this study, and consent was obtained from the patient’s parents. The male patient is the first child of a young non-consanguineous and healthy couple and has one normal sister and one paternal half-sister. He was born at term by vaginal delivery after a pregnancy with hypertension and a bleeding episode, with a birth weight of 1,980 g (10th centile), length 42 cm (10th-25th centile), and occipital frontal circumference (OFC) unavailable. He stayed 11 days in the nursery because of low birth weight and dysmorphisms. Hematologic abnormalities were not observed during the neonatal period. At the age of three months, a computerized cranial tomography showed hydrocephaly and at age of six months, the echocardiography showed pulmonary stenosis. At one year old, he had endocarditis, being hospitalized for 18 days. He also had three episodes of bronchopneumonia by the age of two years. At one year and 10 months old, he presented height of 72 cm (<5th centile), weight of 7,200 g (<5th centile), OFC of 47 cm (10th-25th centile). The clinical evaluation revealed: microsomia, relative macrocephaly, brachycephaly, downslanted palpebral fissures, long and marked eyelashes, synophrys, large ears, hipoplastic ala nasi, prominent nose, high nasal bridge, long and smooth philtrum, abnormal tooth implantation, high palate, forehead abnormal hair implantation, hirsutism, pectus carinatum, thoracic asymmetry, vertical palmar creases one on the left hand and two on the right, overlying position of toes, micropenis and bilateral cryptorchidism (Figure 1a). He evolved with moderate development and speech delay, and had a few convulsion episodes at age of two years. A new cardiac evaluation showed atrial septal defect, which was surgically corrected at age of 5 years. The clinical evaluation at age of ten years showed: height 119 cm (<5th centile), weight 25 kg (5th centile) and OFC 50.5 cm (50th centile). At this time, the patient additionally presented muscular hypotonia and presented with moderate intellectual disability, aggressive and hyperactive behavior, limited verbal language repertoire and dysarthria. At age of 14 years, he showed height 125 cm (<5th centile), weight 26 kg (5th centile) and OFC 52.5 cm (50th centile) (Figure 1b). At this time, the patient underwent an assessment of intellectual and neuropsychological skills and had a very limited verbal repertoire, but showed communicative intention, good eye contact and used some gestures to express his intentions. Other behavioral characteristics included mild psychomotor disabilities and lack of symbolic skills, indicating severe cognitive impairment. In daily life activities, according to the mother, he needs supervision.

Bottom Line: Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype.Compared to patients from the literature, the patient's phenotype is more compatible to the 1q32 duplication's clinical phenotype, although some clinical features may also be associated to the deleted segment on chromosome 11.This is the smallest 11q terminal deletion ever reported and the first association between 1q32.3 duplication and 11q25 deletion in the literature.

View Article: PubMed Central - HTML - PubMed

Affiliation: Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, SP, Brazil.

ABSTRACT

Background: Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype.

Case presentation: We report a clinical and cytogenomic study of a patient with multiple congenital anomalies, heart defect, neuromotordevelopment delay, intellectual disability, who presents partial trisomy 1q32 and partial monosomy 11q25 inherited from a paternal balanced translocation identified by chromosome microarray and fluorescence in situ hybridization.

Conclusion: Compared to patients from the literature, the patient's phenotype is more compatible to the 1q32 duplication's clinical phenotype, although some clinical features may also be associated to the deleted segment on chromosome 11. This is the smallest 11q terminal deletion ever reported and the first association between 1q32.3 duplication and 11q25 deletion in the literature.

No MeSH data available.


Related in: MedlinePlus