A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review
3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a par...
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Frontiers Media S.A.
2019-07-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fped.2019.00270/full |
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doaj-4f9ab447177e4dc9bf32755f87f4dc032020-11-24T21:34:41ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602019-07-01710.3389/fped.2019.00270454596A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature ReviewAdela Chirita Emandi0Adela Chirita Emandi1Andreea Iulia Dobrescu2Andreea Iulia Dobrescu3Gabriela Doros4Gabriela Doros5Capucine Hyon6Capucine Hyon7Capucine Hyon8Diana Miclea9Calin Popoiu10Calin Popoiu11Maria Puiu12Maria Puiu13Smaranda Arghirescu14Smaranda Arghirescu15Discipline of Genetics, Victor Babeș University of Medicine and Pharmacy, Timișoara, Romania“Louis Turcanu” Clinical Emergency Hospital for Children, Timișoara, RomaniaDiscipline of Genetics, Victor Babeș University of Medicine and Pharmacy, Timișoara, Romania“Louis Turcanu” Clinical Emergency Hospital for Children, Timișoara, Romania“Louis Turcanu” Clinical Emergency Hospital for Children, Timișoara, RomaniaIIIrd Pediatric Clinic, Pediatric Cardiology, Victor Babeș University of Medicine and Pharmacy, Timișoara, RomaniaDépartement de Génétique Médicale, AP-HP, GHUEP, Hôpital Armand Trousseau, Paris, FranceINSERM, UMRS 933, Hôpital Armand Trousseau, Paris, FranceSorbonne Universités, UPMC Univ Paris 06, Paris, FranceGenetics Department Cluj-Napoca, Iuliu Hațieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania“Louis Turcanu” Clinical Emergency Hospital for Children, Timișoara, RomaniaDiscipline of Pediatric Surgery, Victor Babeș University of Medicine and Pharmacy, Timișoara, RomaniaDiscipline of Genetics, Victor Babeș University of Medicine and Pharmacy, Timișoara, Romania“Louis Turcanu” Clinical Emergency Hospital for Children, Timișoara, Romania“Louis Turcanu” Clinical Emergency Hospital for Children, Timișoara, RomaniaIIIrd Pediatric Clinic, Victor Babeș University of Medicine and Pharmacy, Timișoara, Romania3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a particular phenotype (microcephaly, “full moon” face, flattened facial profile, large ears, auricular polyp, and dental dystrophies), motor and cognitive delay, characteristics of autism spectrum disorder and aggressive behavior. He also presented intrauterine growth restriction (birth weight 2,400 g) and a ventricular septal defect. SNP Array revealed a 962 kb copy number loss, on the chromosome 3q29 band (195519857–196482211), consistent with 3q29 microdeletion syndrome. FISH analysis using a RP11-252K11 probe confirmed the deletion in the proband, which was not present in the parents. Although the patient's deletion is relatively small, it partly overlaps the canonical 3q29 deletion (defined between TFRC and DLG1 gene) and extends upstream, associating a different facial phenotype compared to the classic 3q29 deletion, nonetheless showing a similar psychiatric disorder. This deletion is different from the canonical region, as it does not include the PAK2 and DLG1 genes, considered as candidates for causing intellectual disability. Thus, narrowing the genotype-phenotype correlation for the 3q29 band, FBX045 is suggested as a candidate gene for the neuropsychiatric phenotype.https://www.frontiersin.org/article/10.3389/fped.2019.00270/full3q29cytogeneticsintellectual disabilitycardiac malformationbehavior |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Adela Chirita Emandi Adela Chirita Emandi Andreea Iulia Dobrescu Andreea Iulia Dobrescu Gabriela Doros Gabriela Doros Capucine Hyon Capucine Hyon Capucine Hyon Diana Miclea Calin Popoiu Calin Popoiu Maria Puiu Maria Puiu Smaranda Arghirescu Smaranda Arghirescu |
| spellingShingle |
Adela Chirita Emandi Adela Chirita Emandi Andreea Iulia Dobrescu Andreea Iulia Dobrescu Gabriela Doros Gabriela Doros Capucine Hyon Capucine Hyon Capucine Hyon Diana Miclea Calin Popoiu Calin Popoiu Maria Puiu Maria Puiu Smaranda Arghirescu Smaranda Arghirescu A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review Frontiers in Pediatrics 3q29 cytogenetics intellectual disability cardiac malformation behavior |
| author_facet |
Adela Chirita Emandi Adela Chirita Emandi Andreea Iulia Dobrescu Andreea Iulia Dobrescu Gabriela Doros Gabriela Doros Capucine Hyon Capucine Hyon Capucine Hyon Diana Miclea Calin Popoiu Calin Popoiu Maria Puiu Maria Puiu Smaranda Arghirescu Smaranda Arghirescu |
| author_sort |
Adela Chirita Emandi |
| title |
A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
| title_short |
A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
| title_full |
A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
| title_fullStr |
A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
| title_full_unstemmed |
A Novel 3q29 Deletion in Association With Developmental Delay and Heart Malformation—Case Report With Literature Review |
| title_sort |
novel 3q29 deletion in association with developmental delay and heart malformation—case report with literature review |
| publisher |
Frontiers Media S.A. |
| series |
Frontiers in Pediatrics |
| issn |
2296-2360 |
| publishDate |
2019-07-01 |
| description |
3q29 deletion syndrome is a rare disorder, causing a complex phenotype. Clinical features are variable and relatively non-specific. Our report aims to present an atypical, de novo deletion in chromosome band 3q29 in a preschool boy, first child of healthy non-consanguineous parents, presenting a particular phenotype (microcephaly, “full moon” face, flattened facial profile, large ears, auricular polyp, and dental dystrophies), motor and cognitive delay, characteristics of autism spectrum disorder and aggressive behavior. He also presented intrauterine growth restriction (birth weight 2,400 g) and a ventricular septal defect. SNP Array revealed a 962 kb copy number loss, on the chromosome 3q29 band (195519857–196482211), consistent with 3q29 microdeletion syndrome. FISH analysis using a RP11-252K11 probe confirmed the deletion in the proband, which was not present in the parents. Although the patient's deletion is relatively small, it partly overlaps the canonical 3q29 deletion (defined between TFRC and DLG1 gene) and extends upstream, associating a different facial phenotype compared to the classic 3q29 deletion, nonetheless showing a similar psychiatric disorder. This deletion is different from the canonical region, as it does not include the PAK2 and DLG1 genes, considered as candidates for causing intellectual disability. Thus, narrowing the genotype-phenotype correlation for the 3q29 band, FBX045 is suggested as a candidate gene for the neuropsychiatric phenotype. |
| topic |
3q29 cytogenetics intellectual disability cardiac malformation behavior |
| url |
https://www.frontiersin.org/article/10.3389/fped.2019.00270/full |
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