Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy
Abstract: The frequency of 18p deletion syndrome is estimated to be ∼1/50,000 live births and is more commonly associated with certain clinical features including short stature, intellectual disability, and facial dysmorphism. Physical examination of our patient revealed a short stature, intellectual disability, facial dysmorphism (microcephaly, ptosis, epicanthus, low nasal bridge, protruding ears, long philtrum, and thin lips), and clinodactyly of the fifth finger. The peripheral karyotype was 46, XX, del (18) (p11.32p11.2). DNA microarray analysis revealed a de novo 13.9-Mb deletion at 18p11.32p.11.21. Echocardiography revealed asymmetric septal hypertrophy. Congenital cardiac abnormalities are present very rarely in this syndrome. This finding suggests that one locus or loci that play a role in cardiac development is located in this chromosomal region. Although rare, cardiac hypertrophies should be kept in mind when evaluating a patient with phenotypic anomalies and genetic results compatible with an 18p deletion syndrome.
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
Online-Ressource
- Language
-
Englisch
- Bibliographic citation
-
Presentation of an Infant with Chromosome 18p Deletion Syndrome and Asymmetric Septal Hypertrophy ; day:25 ; month:02 ; year:2022
Global medical genetics ; (25.02.2022)
- Contributor
-
Kocaaga, Ayca
Yimenicioglu, Sevgi
- DOI
-
10.1055/s-0042-1743261
- URN
-
urn:nbn:de:101:1-2022042111282920358945
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:30 AM CEST
Data provider
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Kocaaga, Ayca
- Yimenicioglu, Sevgi
Other Objects (12)
Is the increased septal perfusion the signal of asymmetrical septal hypertrophy?
Transcatheter aortic valve implantation in patients with significant septal hypertrophy
Jacobsen syndrome: Chromosome deletion at llq23
Association between basal septal hypertrophy and left ventricular geometry in a community population
Klinefelter syndrome with long-arm X-chromosome deletion
Chromosome 3q29 deletion with gastrointestinal malformation: a case report
A deletion map of the WAGR region on chromosome II
Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
The butterfly pattern in a patient with chromosome 7 deletion
Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis
Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome
Is the increased septal perfusion the signal of asymmetrical septal hypertrophy?
Transcatheter aortic valve implantation in patients with significant septal hypertrophy
Jacobsen syndrome: Chromosome deletion at llq23
Association between basal septal hypertrophy and left ventricular geometry in a community population
Klinefelter syndrome with long-arm X-chromosome deletion
Chromosome 3q29 deletion with gastrointestinal malformation: a case report
A deletion map of the WAGR region on chromosome II
Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
The butterfly pattern in a patient with chromosome 7 deletion
Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis
Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29
Impaired multiple object tracking in children with chromosome 22q11.2 deletion syndrome
Is the increased septal perfusion the signal of asymmetrical septal hypertrophy?
Transcatheter aortic valve implantation in patients with significant septal hypertrophy
Jacobsen syndrome: Chromosome deletion at llq23
Association between basal septal hypertrophy and left ventricular geometry in a community population
Klinefelter syndrome with long-arm X-chromosome deletion
Chromosome 3q29 deletion with gastrointestinal malformation: a case report
A deletion map of the WAGR region on chromosome II
Case report of Chromosome 3q25 deletion syndrome or Mucopolysaccharidosis IIIB
The butterfly pattern in a patient with chromosome 7 deletion
Philadelphia chromosome positive chronic myeloid leukemia with 5q deletion at diagnosis
Genetic underpinnings explored: OPA1 deletion and complex phenotypes on chromosome 3q29