18p deletion syndrome: Case report with clinical consideration and management

Goyal, Megha; Jain, Mayuri; Singhal, Sachin; Nandimath, Kirty

doi:10.4103/ccd.ccd_129_17

Cited by 9 publications

(3 citation statements)

References 13 publications

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“…Clinical features vary considerably within patients. Te 18p deletion syndrome survival is variable, ranging from a few months to several decades [6]. Te majority of patients (80%) show minor malformations and mild intellectual disability [7].…”

Section: Discussionmentioning

confidence: 99%

“…In these cases the phenotype may be infuenced by the accompanying trisomy, thus explaining the clinical diversity observed in the 18p syndrome [10]. Other factors that may afect this variability include the patients' varying ages, undiagnosed mosaicism, and unmasking of a recessive trait by the deletion [6]. Table 1 displays several genomic (chromosomal microdeletions) or epigenetic mutations associated with diferent genetic diseases or malformative syndromes.…”

Section: Discussionmentioning

confidence: 99%

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A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype

Banker

Mungala

Parekh

et al. 2023

Case Reports in Pediatrics

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Microdeletion of the short arm of chromosome 18 is one of the most common chromosome deletion syndromes. Its estimated frequency is 1 in 50,000 live-born infants, with female prevalence over males. Around 150 cases have been described till now. The reported abnormalities include growth deficiency, hypotonia, microcephaly, dysmorphic facial features such as ptosis, epicanthal folds, hypertelorism and micrognathia, and relatively small hands and feet. Our patient was a full-term low birth weight (2150 gm) female newborn, showing cleft upper lip and palate (hard and soft palate), bilateral congenital Talipes Equinovarus with rocker bottom foot, microcephaly, atrial septal defect. She was initially conservatively managed with gavage feeding, then shifted into paladai feeding of expressed breast milk. A multidisciplinary approach was adopted due to various malformations and for the potential occurring complications. To our knowledge, this is the first case diagnosed during the neonatal period.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype

Banker

Mungala

Parekh

et al. 2023

Case Reports in Pediatrics

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show abstract

“…It refers to chromosomal abnormalities caused by the deletion of the short arm of chromosome 18. This disease is extremely rare, with an incidence of approximately 1:50,000 live births [2], more than 75% of which are de novo deletions [3]. To date, more than 150 cases have been reported.…”

Section: Introductionmentioning

confidence: 99%

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature

Ye,

Shu,

Wang

et al. 2024

Preprint

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Background 18p deletion (18p-) syndrome is a rare chromosomal abnormality with a wide range of phenotypes. Its main clinical features are short stature, intellectual disability, and facial dysmorphism, which are rarely accompanied by autoimmune thyroid disease (ATD) or pituitary abnormalities. Herein, we report the first Chinese patient with a de novo 18p deletion who presented with ATD. Case presentation: A 24-year-old female patient presented with severe ptosis, intellectual disability, hypothyroidism associated with Hashimoto’s thyroiditis, and a non-functional pituitary adenoma. Deletion of the short arm of chromosome 18 was detected in a G-banded karyotyping (46, XX, del [18] [p11.1]). Chromosomal microarray analysis revealed a 14.9Mb deletion in chromosome 18p11.32p11.21, defined as arr[GRCh38]18p11.32p11.21(136227–15079295)x1. The literature review indicated that patients with 18p- syndrome presenting with ATD were mainly female with early disease onset (mean age: 15 years). Conclusions 18p- syndrome is associated with ATD and pituitary abnormalities. Therefore, examining the endocrine system and detecting defective genes in the 18p breakpoint region are crucial in predicting prognosis.

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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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18p deletion syndrome: Case report with clinical consideration and management

Cited by 9 publications

References 13 publications

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype

A Neonatal Patient Diagnosed with Chromosome 18p 11.1 Microdeletion Syndrome Presented with Trisomy 18Like Phenotype

Autoimmune thyroid disease and pituitary adenoma in a female patient with 18p deletion syndrome: a case report and review of the literature

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

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