Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother

Misceo, Doriana; Ørstavik, Karen Helene; Lybæk, Helle; Sandvig, Inger; Ormerod, Eli; Houge, Gunnar; Frengen, Eirik

doi:10.1002/ajmg.a.33106

Cited by 7 publications

(2 citation statements)

References 16 publications

(27 reference statements)

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“…Clinical features of monosomy 18p include mild to moderate mental retardation, short stature, round face with short protruding philtrum, palpebral ptosis and large ears with detached pinnae [1]. Familial transmission of partial monosomy 18p is rare and has only been reported in a few cases [2]. 18p trisomy is a rare finding and is often associated with a quite mild and nonspecific phenotype, even when the whole arm is duplicated.…”

Section: Resultsmentioning

confidence: 99%

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Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

et al. 2011

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BackgroundRecent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland) and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenotype is of great value.Findings/resultsWe report on two phenotypically normal foetuses carrying a maternally-inherited interstitial submicroscopic abnormality of chromosome 18p11.32. Both abnormalities were found with the aneuploidy MLPA kit P095 during rapid aneuploidy detection, which was offered along with conventional karyotyping. Foetus 1 and its mother have a 1,7 Mb deletion and foetus 2 and its mother have a 1,9 Mb duplication. In both cases normal babies were born. We used the HumanCytoSNP-12 array of Illumina to visualize the CNVs and map the breakpoints.ConclusionsWe suggest that a CNV at 18p11.32 (528,050-2,337,486) may represent a new benign euchromatic variant.

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Section: Resultsmentioning

confidence: 99%

“…Correlation between genotype and phenotype when a second chromosome is involved seems to have a limited value as the second chromosome may also contribute to the phenotype [8]. There are even fewer familial cases in the literature: 8 cases of familial deletion 18p [2]. However all these patients had microscopically visible abnormality.…”

Section: Resultsmentioning

confidence: 99%

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

et al. 2011

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Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman

Zhu

Cao

et al. 2019

Molec Gen & Gen Med

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Background The 18p terminal deletion with inverted duplication is an extremely rare chromosome structure abnormality and the common clinical manifestations include intellectual disability and speech delay, etc. Up to now, only three confirmed cases were reported in Europe, and here, for the first time in the Asian population, we report a case of de novo 18p inv‐dup‐del in a Chinese pregnant woman. This structural variation was accidentally discovered by the noninvasive prenatal testing (NIPT) during her prenatal examination. Methods Next generation sequencing (NGS) based copy number variations (CNVs) screening and karyotype analysis were performed to verify the type and heredity of the rearrangement, and the fluorescent in situ hybridization (FISH) analysis was also used to confirm the terminal deletion and inverted duplication. Results The patient has a de novo 18p11.31‐18p11.1 inverted duplication with a 6.2 Mb 18p terminal deletion. This rare chromosome imbalance, most likely caused by the U‐type exchange mechanism, resulted in the aberrant phenotype of mental disability, speech delay, seizure, and strabismus. However, the rearrangement was not inherited by her unborn child. Conclusion This report added a new type of variation to the spectrum of 18p terminal deletion with inverted duplication, and demonstrated that the maternal chromosome rearrangement discovered in NIPT should not just be consider as an interference factor but also a potential indicator of previously undiscovered pathogenic chromosome structure variations in pregnant women.

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Del(18p) Syndrome

2012

Atlas of Genetic Diagnosis and Counseling

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Inheritance of a terminal 7.1 Mb 18p deletion flanked by a 2.3 Mb duplication from a physically normal mother

Cited by 7 publications

References 16 publications

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

Detection of a rare de novo 18p terminal deletion with inverted duplication in a Chinese pregnant woman

Del(18p) Syndrome

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