Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis

Chu, Fu-Chieh; Shaw, Steven W.; Lee, Chien-Hong; Lo, Lun Jou; Hsu, Jane Yung-jen; Hung, Tai‐Ho

doi:10.3390/genes12101480

Cited by 3 publications

(1 citation statement)

References 27 publications

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“…The deletion carriers are reported to be more symptomatic and have higher neonatal intensive care unit (ICU) transfer, while our study has not shown such tendency. Interestingly, Chu et al have mentioned that the prevalence of congenital heart disease was also higher in the deletion group, and most of our ultrasound abnormalities in the deletion group are cardiovascular ( 31 ). The other two case reports were cases with 15q11.2 BP1–BP2 duplication.…”

Section: Discussionmentioning

confidence: 67%

The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients

Kang

Lee

et al. 2021

Front. Med.

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Prenatal genetic counseling of fetuses diagnosed with 15q11.2 copy number variants (CNVs) involving the BP1–BP2 region is difficult due to limited information and controversial opinion on prognosis. In total, we collected the data of 36 pregnant women who underwent prenatal microarray analysis from 2010 to 2017 and were assessed at National Taiwan University Hospital. Comparison of the maternal characteristics, prenatal ultrasound findings, and postnatal outcomes among the different cases involving the 15q11.2 BP1–BP2 region were presented. Out of the 36 fetuses diagnosed with CNVs involving the BP1–BP2 region, five were diagnosed with microduplications and 31 with microdeletions. Among the participants, 10 pregnant women received termination of pregnancy and 26 gave birth to healthy individuals (27 babies in total). The prognoses of 15q11.2 CNVs were controversial and recent studies have revealed its low pathogenicity. In our study, the prenatal abnormal ultrasound findings were recorded in 12 participants and were associated with 15q11.2 deletions. No obvious developmental delay or neurological disorders were detected in early childhood.

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Section: Discussionmentioning

confidence: 67%

The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients

Kang

Lee

et al. 2021

Front. Med.

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Prader–Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review

Butler

2023

IJMS

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Prader–Willi syndrome (PWS) is a complex genetic disorder with three PWS molecular genetic classes and presents as severe hypotonia, failure to thrive, hypogonadism/hypogenitalism and developmental delay during infancy. Hyperphagia, obesity, learning and behavioral problems, short stature with growth and other hormone deficiencies are identified during childhood. Those with the larger 15q11-q13 Type I deletion with the absence of four non-imprinted genes (NIPA1, NIPA2, CYFIP1, TUBGCP5) from the 15q11.2 BP1-BP2 region are more severely affected compared with those with PWS having a smaller Type II deletion. NIPA1 and NIPA2 genes encode magnesium and cation transporters, supporting brain and muscle development and function, glucose and insulin metabolism and neurobehavioral outcomes. Lower magnesium levels are reported in those with Type I deletions. The CYFIP1 gene encodes a protein associated with fragile X syndrome. The TUBGCP5 gene is associated with attention-deficit hyperactivity disorder (ADHD) and compulsions, more commonly seen in PWS with the Type I deletion. When the 15q11.2 BP1-BP2 region alone is deleted, neurodevelopment, motor, learning and behavioral problems including seizures, ADHD, obsessive-compulsive disorder (OCD) and autism may occur with other clinical findings recognized as Burnside–Butler syndrome. The genes in the 15q11.2 BP1-BP2 region may contribute to more clinical involvement and comorbidities in those with PWS and Type I deletions.

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YETKİN YAŞLI ŞƏXSDƏ 15q11.2 XROMOSOM MİKRODUPLİKASİYASI SİNDROMUNUN DİAQNOSTİKASINA DAİR KLİNİK NÜMUNƏ

Delva,

Hryn,

Delva

et al. 2024

Azerbaijan Medical Journal

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The 15q11.2 microduplication syndrome is a rare genetic disease caused by the duplication of a small segment of the genetic material of the chromosome 15, to date it remains unknown to the physicians. The aim of the study was to compile an algorithm for diagnosing 15q11.2 microduplication syndrome in adults and differentiating it from a phenotypically similar genetically determined condition (Prader-Willi syndrome). Materials and methods – a clinical case of 15q11.2 microduplication syndrome with mild clinical course was described; neurological, clinical and psychopathological examination was performed, functional diagnostic methods were used. The described clinical case of a relatively mild clinical course of the 15q11.2 microduplication syndrome and its diagnosis in adulthood indicates a significant phenotypic variability of this phenomenon. This study demonstrates the coincidence of clinical manifestations present in the patient with the currently described symptoms of microduplication of a fragment of the fifteenth chromosome 15q11.2. The results of molecular genetic study with the detection of duplication at the 15q11.2 locus (by STR marker D15S817) are unquestionable confirmations of this syndrome. 15-ci xromosomun 15q11.2 mikroduplikasiyası ilə əlaqədar törənən genetik sindrom indiyə qədər həkimlərin əksəriyyətinə məlum deyildir. Aparılmış tədqiqatın məqsədi yaşlı şəxsdə bu genetik patologiyanın diaqnostikası üçün alqoritm hazırlamaq və fenotipik cəhətdən bu sindroma bənzər olan genetik xəstəlikdən (Prader-Villi sindromu) diferensiasiyasını araşdırmaq olmuşdur. Məqalədə 15q11.2 xromosom mikroduplikasiyası sindromu olan xəstə haqqında məlumat verilmişdir. Təsvir edilmiş klinik nümunənin nisbətən yüngülgedişli xəstəliyə aid olması və diaqnostikasının fərqliliyi bu genetik fenomenin əhəmiyyətli dərəcədə variabelliyə malik olduğunu göstərir. Aparılmış müayinələr müşahidə edilən xəstədə təsvir edilən əlamətlərin məhz 15q11.2 xromosom mikroduplikasiyası ilə əlaqədar olduğunu aşkara çıxarmışdır. Bu sindromun diaqnostikasının mübahisə doğurmayan təsdiqinə yalnız molekulyar-genetik tədqiqat zamanı 15q11.2 xromosom lokusunda mikroduplikasiyanın aşkar edilməsi ilə nail olmaq mümkündür. Синдром микродупликации 15q11.2 – редкое генетическое заболевание, причиной которого является удвоение небольшого сегмента генетического материала 15-й хромосомы, до настоящего времени остается неизвестным для большинства врачей. Проведено исследование с целью составить алгоритм диагностирования синдрома микродупликации 15q11.2 во взрослом возрасте и его дифференцировки с фенотипически сходным генетически обусловленным состоянием (синдромом Прадера-Вилли). Продемонстрирован клинический случай синдрома микродупликации 15q11.2 с мягким клиническим течением; проведено неврологическое, клинико-психопатологическое исследование, использованы функциональные методы диагностики. Описанный клинический случай сравнительно мягкого клинического течения синдрома микродупликации 15q11.2 и его диагностирования во взрослом возрасте, свидетельствует о значительной фенотипической вариабельности этого феномена. Проведенное исследование демонстрирует совпадение клинических проявлений, имеющихся у пациента с описанными на сегодня симптомами микродупликации фрагмента пятнадцатой хромосомы 15q11.2. Неоспоримыми подтверждениями данного синдрома являются результаты молекулярно-генетического исследования с выявлением дупликации в локусе 15q11.2 (по STR-маркеру D15S817).

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Adverse Perinatal and Early Life Outcomes following 15q11.2 CNV Diagnosis

Cited by 3 publications

References 27 publications

The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients

The Prenatal Diagnosis and Clinical Outcomes of Fetuses With 15q11.2 Copy Number Variants: A Case Series of 36 Patients

Prader–Willi Syndrome and Chromosome 15q11.2 BP1-BP2 Region: A Review

YETKİN YAŞLI ŞƏXSDƏ 15q11.2 XROMOSOM MİKRODUPLİKASİYASI SİNDROMUNUN DİAQNOSTİKASINA DAİR KLİNİK NÜMUNƏ

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