Targeted prenatal diagnosis of Pallister-Killian syndrome

Kucińska‐Chahwan, Anna; Bijok, Julia; Dąbkowska, Sylwia; Jóźwiak, Anna; Ilnicka, Alicja; Nowakowska, Beata; Jakiel, Grzegorz; Roszkowski, Tomasz

doi:10.1002/pd.5030

Cited by 13 publications

(36 citation statements)

References 44 publications

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“…Murakami reported a non‐mosaic isochromosome 12p in the third trimester in a case of polyhydramnios and CDH 15% of cases in the literature had cardiac malformations (Table ) . A tetralogy of Fallot and mild pericardial effusion was seen in case 1 of Doray et alPark detected pulmonary stenosis and right ventricular dilation of the heart in a fetus at 23 weeks.…”

Section: Introductionmentioning

confidence: 89%

“…Diagnosis was performed at >24 weeks in cases reported earlier . There have been case reports of first trimester diagnosis in the recent literature . The mean gestational age reported by Doray et al was 22 weeks, with a range from 9 to 33 weeks’ gestation…”

Section: Introductionmentioning

confidence: 97%

“…Wilson et al concluded that the most consistent reported prenatal ultrasound findings for tetrasomy 12p include polyhydramnios with short femurs and a diaphragmatic hernia . Recognition of congenital malformation patterns, especially CDH prenatally, may allow appropriate selection of tissue for chromosome analysis. Polyhydramnios observed along with CDH probably represents oesophageal compression due to hernia. Polyhydramnios has been seen in PKS cases without CDH as well.…”

Section: Introductionmentioning

confidence: 98%

“…A 3D reconstruction was then carried out, which showed facial dysmorphism indicative of PKS, with a long philtrum and small upturned nose. Karyotype on AF suggested marker chromosome and FISH for whole chromosome 12 confirmed the diagnosis. Well‐defined sonographic markers such as increased NT, thickened nuchal fold and prenasal thickness (Figure ) have been seen in both the first and second trimester fetuses . Kim et al present two cases of early prenatal diagnosis of PKS after detection of raised NT during routine first trimester screening for trisomy 21.…”

Section: Introductionmentioning

confidence: 99%

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Pallister‐Killian syndrome: Review of fetal phenotype

Thakur

Gupta²,

Tiwari³

et al. 2018

Clinical Genetics

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Pallister‐Killian syndrome is a multi‐system sporadic disorder with developmental delay. It is a rare chromosomal abnormality involving supernumerary isochormosome 12p. The disorder exhibits tissue specific mosaicism. The first prenatal diagnosis of PKS was reported in 1985 after ultrasound detection of fetal anomalies. Since this observation, there have been about 62 reports of fetuses with PKS. In this review, we cover the prenatal aspects of PKS.

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Section: Introductionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 97%

Section: Introductionmentioning

confidence: 98%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Pallister‐Killian syndrome: Review of fetal phenotype

Thakur

Gupta²,

Tiwari³

et al. 2018

Clinical Genetics

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“…In comparison with SGB syndrome, PKS has a very specific and distinctive feature: rhizomelic limb shortening, which could be a reason for specific PKS testing in fetuses with increased NT [Kucińska-Chahwan et al, 2017]. The incidence of CDH is similar between the 2 syndromes as with that for polyhydramnios, which is a frequent finding in both syndromes.…”

Section: Pallister-killian Syndromementioning

confidence: 69%

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

et al. 2018

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Fetal overgrowth and numerous congenital malformations can be detected in every trimester of pregnancy. New technologies in molecular testing, such as chromosomal microarray analysis and next-generation sequencing, continually demonstrate advantages for definitive diagnosis in fetal life. Simpson-Golabi-Behmel (SGB) syndrome is a rare but well-known overgrowth condition that is rarely diagnosed in the prenatal setting. We report 3 cases of SGB syndrome in 2 consecutive pregnancies. In our series, distinctive prenatal sonographic findings led to molecular diagnosis. Exome sequencing from fetal DNA revealed a hemizygous splice site variant in the GPC3 gene: NM_004484.3:c.1166+ 1G>T. The mother is a heterozygous carrier. We also provide an overview of the previously published 57 prenatal cases of SGB syndrome with prevalence estimation of the symptoms to aid prenatal differential diagnosis of fetal overgrowth syndromes.

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Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

Salzano

Raible

Kaur

et al. 2018

American J of Med Genetics Pt A

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Pallister‐Killian syndrome (PKS) is a tissue limited mosaic disorder, characterized by variable degrees of neurodevelopmental delay and intellectual disability, typical craniofacial findings, skin pigmentation anomalies and multiple congenital malformations. The wide phenotypic spectrum of PKS in conjunction with the mosaic distribution of the i(12p) makes PKS an underdiagnosed disorder. Recognition of prenatal findings that should raise a suspicion of PKS is complicated by the fragmentation of data currently available in the literature and challenges in diagnosing a mosaic diagnosis on prenatal testing. Ultrasound anomalies, especially congenital diaphragmatic hernia, congenital heart defects, and rhizomelic limb shortening, have been related to PKS, but they are singularly not specific and are not present in all affected fetuses. We have combined prenatal data from 86 previously published reports and from our cohort of 114 PKS probands (retrospectively reviewed). Summarizing this data we have defined a prenatal growth profile and identified markers of perinatal outcome which collectively provide guidelines for early recognition of the distinctive prenatal profile and consideration of a diagnosis of PKS as well as for management and genetic counseling.

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Targeted prenatal diagnosis of Pallister-Killian syndrome

Cited by 13 publications

References 44 publications

Pallister‐Killian syndrome: Review of fetal phenotype

Pallister‐Killian syndrome: Review of fetal phenotype

Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases

Prenatal profile of Pallister‐Killian syndrome: Retrospective analysis of 114 pregnancies, literature review and approach to prenatal diagnosis

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