A Patient with Hypopituitarism and Isochromosome 18q Mosaicism

Turan, Serap; Saka, Nurçin; Güney, İlter; Bereket, Abdullah

doi:10.1159/000089424

Cited by 3 publications

(5 citation statements)

References 67 publications

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“…Table 3 summarizes all 67 pathogenic CNVs published so far, found in 83 patients with CH, including the present study 5,13,14,16–65 . Forty‐five patients had their PP characterized by sellar MRI, 35 (78%) had EPP, two had absent PP and eight had normal PP.…”

Section: Resultsmentioning

confidence: 91%

Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review

Correa‐Silva

Kunii

Mitne‐Neto

et al. 2022

J Neuroendocrinology

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Abnormal hypothalamic/posterior pituitary development appears to be a major determinant of pituitary stalk interruption syndrome (PSIS). The observation of familial cases and associated congenital abnormalities suggests a genetic basis. Single‐gene mutations explain less than 5% of the cases, and whole exome sequencing has shown heterogeneous results. The present study aimed to assess copy number variation (CNV) using array‐based comparative genomic hybridization (aCGH) in patients with non‐syndromic PSIS and comprehensively review data from the literature on CNV analysis in congenital hypopituitarism (CH) patients. Twenty‐one patients with sporadic CH from our outpatient clinics presented with ectopic posterior pituitary (EPP) and no central nervous system abnormalities on magnetic resonance image (MRI) or any other malformations on physical examination at presentation were enrolled in the study. aCGH using a whole‐genome customized 400K oligonucleotide platform was performed in our patients. For the literature review, we searched for case reports of patients with CH and CNV detected by either karyotype or aCGH reported in PubMed up to November 2021. Thirty‐five distinct rare CNVs were observed in 18 patients (86%) and two of them (6%) were classified as pathogenic: one deletion of 1.8 Mb in chromosome 17 (17q12) and one deletion of 15 Mb in chromosome 18 (18p11.32p11.21), each one in a distinct patient. In the literature review, 67 pathogenic CNVs were published in 83 patients with CH, including the present study. Most of these patients had EPP (78% out of the 45 evaluated by sellar MRI) and were syndromic (70%). The most frequently affected chromosomes were X, 18, 20 and 1. Our study has found that CNV can be a mechanism of genetic abnormality in non‐syndromic patients with CH and EPP. In future studies, one or more genes in those CNVs, both pathogenic and variant of uncertain significance, may be considered as good candidate genes.

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Section: Resultsmentioning

confidence: 91%

Copy number variation in pituitary stalk interruption syndrome: A large case series of sporadic non‐syndromic patients and literature review

Correa‐Silva

Kunii

Mitne‐Neto

et al. 2022

J Neuroendocrinology

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“…En la trisomía 18q a diferencia de nuestro caso, se reporta retraso severo del desarrollo, cardiopatía congénita, fisura palatina y pie bot, lo cual compromete su sobrevida postnatal 2,6 . En cambio, el epicanto, puente nasal bajo, cuello corto y ancho, son rasgos observados en la deleción del brazo corto del cromosoma 18 7,8 .…”

Section: Discussionunclassified

“…Nuestra paciente tiene dismorfias que se observan de preferencia en la deleción del brazo corto cromosoma 18. El retraso de lenguaje observado en ella es otra característica bien documentada de los portadores de esta deleción 1,2,8 .…”

Section: Discussionunclassified

“…El Isocromoma 18q [i(18q)] y la deleción del brazo corto del cromosoma 18 (18p-), son anomalías estructurales que se reportan con cierta frecuencia en la literatura. Sin embargo, la coexistencia de ambas alteraciones en un mismo individuo es muy infrecuente 1,2 .…”

Section: Introductionunclassified

“…En esta alteración, consistente en dos brazos largos (q) de este cromosoma reunidos a nivel del centrómero, los afectados tienen algunos rasgos de trisomía 18, dada las tres copias de su brazo largo (trisomía 18q). Ellos presentan retraso desarrollo severo, cardiopatía congénita, fisura palatina y malformaciones de extremidades, todo lo cual compromete su sobrevida postnatal 2,6 .…”

Section: Introductionunclassified

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Isocromosoma 18q en mosaico: Caso clínico

B²,

et al. 2009

Rev. chil. pediatr.

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Mosaic Isochromosome 18q: case-report Background: The Isochromosome 18q and chromosome 18 short arm deletion (18p-) constitute structural anomalies that are reported with certain frequency in the literature. However, the association of both abnormalities in a patient is very uncommon. Objective: Description of a clinical case of Isochromosome 18 with emphasys in the few phenotypic manifestations. Case-report: Female infant 18 months-old, with short stature, minor dysmorphic features and a slight psychomotor developmental delay, whose chromosomal study in peripheral blood showed a chromosomal mosaicism with two cell lines: chromosome 18 long arm isochromosome and deletion of chromosome 18 short arm. The chromosomal analysis of both parents did not show numerical neither morphological alterations. Discussion: This case illustrates the importance of requesting a karyotype in patients with small stature, dysmorphic features and/or malformations. The patient clinical features are compared with other similar cases described in the literature. The coexistence of both structural abnormalities (mosaicism) is extremely uncommon.

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