Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Karaman, Birsen; Kayserili, Hülya; Ghanbari, Asadollah; Uyguner, Zehra Oya; Toksoy, Güven; Altunoğlu, Umut; Başaran, Seher

doi:10.1186/s13039-018-0395-z

Cited by 22 publications

(16 citation statements)

References 46 publications

(38 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…This further illustrated the varity of ultrasound manifestations of PKS. Karaman et al presented 15 children with PKS, two of whom were macrosomia [13]. Salzano et al summarized all the previously published reports of PKS and obtained the percentage of fetal macrosomia was 14% (26/190) [3].…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples

et al. 2019

View full text Add to dashboard Cite

Background Pallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic genetic disorder characterized by multi-malformations which is caused by the presence of the extra isochromosome 12p. PKS is featured by the tissue-limited mosaicism of the isochromosome 12p [i(12p)]. There were a wide spectrum of prenatal ultrasound findings of PKS, which made it difficult to be found in first or second trimester. Polyhydramnios, diaphragmatic hernia, and rhizomelic limb shortening were the most common prenatal ultrasound abnormalities in PKS. This study retrospectively analyzed the ultrasound findings and molecular cytogenetic results of four PKS fetuses diagnosed by using cord blood samples. Results The ultrasound anomalies of four PKS fetuses are described as follows: fetal macrosomia, cerebral ventriculomegaly, increased NT thickness, rhizomelic limbs shortening, polyhydramnios. Biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), femur length (FL) measurements were above the mean in three fetuses,while one fetus showed rhizomelic limbs shortening. Combined with this study and previous literature, polyhydramnios was the most frequent anomaly observed in prenatal ultrasound examination of PKS, which accounted for 48% (94/194). Fetal macrosomia was present in 15% (29/194), cerebral ventriculomegaly in 13% (25/194), thickened nuchal fold in 9% (18/194), rhizomelic limbs shortening in 26% (51/194). I(12p) was found in the karyotype analysis of cultured cord blood lymphocytes and the mosaic ratios ranged from 2 to 5%. Single nucleotide polymorphisms array (SNP-array) results suggested that the whole short arm of chromosome 12 was duplicated with 2~3 copies. Fluorescence in situ hybridization (FISH) was performed to confirm the results of karyotype and SNP-array. Conclusions In case non-specific indicators such as fetal macrosomia, polyhydramnios and rhizomelic limbs shortening are observed meanwhile in prenatal ultrasound, targeted detection of PKS should be considered. In the prenatal diagnosis of PKS, the combination of SNP-array and FISH with conventional karyotype are the key to seek i(12p) and for precise diagnosis.

show abstract

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples

et al. 2019

View full text Add to dashboard Cite

show abstract

“…Establishing diagnosis in such cases depends on the tissue examined and genetic test used [24]. Isochromosome 12p is rarely isolated from cord blood lymphocytes, whereas its yield from the skin fibroblast is close to 100% [25]. Also, the chorionic villus sampling may miss mosaicism, while detection rate of amniocentesis is nearly 90% [23,26].…”

Section: Genetics Of Cdhmentioning

confidence: 99%

Congenital Diaphragmatic Hernia: A Major Challenge for Neonatologists

Prasad¹

2021

Congenital Anomalies in Newborn Infants - Clinical and Etiopathological Perspectives

View full text Add to dashboard Cite

Congenital diaphragmatic hernia (CDH) is a major congenital anomaly of the neonates, characterized by the herniation of abdominal contents into the thoracic cavity during fetal life. This results in significant pulmonary hypertension and hypoxemia after birth, which responds poorly to therapeutic interventions. CDH is associated with high morbidity and mortality. The exact pathogenesis is not well understood, and genetic factors have been proposed. The management starts in utero, with antenatal diagnosis and identification of prenatal predictors for the outcomes, which help in the selection of cases suitable for fetal therapy. The postnatal management is complicated by the need for variable cardio-respiratory support and even extra corporeal membrane oxygenation (ECMO), before corrective surgery is undertaken. Improvement in the understanding of the pathophysiology of the underdeveloped lungs and pulmonary vessels has contributed to substantial progress in the management of CDH, which has translated into improved outcomes and survival. Still, many questions regarding CDH remain unanswered and the management is largely based on weak evidence.

show abstract

“…Mosaic trisomy of chromosome 12 has been reported in nine cases with variable phenotypes [103]. Here, it is apposite to mention Pallister-Killian syndrome, which is the result of mosaic tetrasomy 12p, inasmuch as this syndrome is consistently shown to be associated with tissue-specific mosaicism (for more information, see [104,105]).…”

Section: Mosaic Chromosome Abnormalitiesmentioning

confidence: 99%

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

Iourov

Vorsanova

Yurov

et al. 2019

Genes

View full text Add to dashboard Cite

Intercellular karyotypic variability has been a focus of genetic research for more than 50 years. It has been repeatedly shown that chromosome heterogeneity manifesting as chromosomal mosaicism is associated with a variety of human diseases. Due to the ability of changing dynamically throughout the ontogeny, chromosomal mosaicism may mediate genome/chromosome instability and intercellular diversity in health and disease in a bottleneck fashion. However, the ubiquity of negligibly small populations of cells with abnormal karyotypes results in difficulties of the interpretation and detection, which may be nonetheless solved by post-genomic cytogenomic technologies. In the post-genomic era, it has become possible to uncover molecular and cellular pathways to genome/chromosome instability (chromosomal mosaicism or heterogeneity) using advanced whole-genome scanning technologies and bioinformatic tools. Furthermore, the opportunities to determine the effect of chromosomal abnormalities on the cellular phenotype seem to be useful for uncovering the intrinsic consequences of chromosomal mosaicism. Accordingly, a post-genomic review of chromosomal mosaicism in the ontogenetic and pathogenetic contexts appears to be required. Here, we review chromosomal mosaicism in its widest sense and discuss further directions of cyto(post)genomic research dedicated to chromosomal heterogeneity.

show abstract

Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

Cited by 22 publications

References 46 publications

Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples

Prenatal diagnosis of Pallister-Killian syndrome using cord blood samples

Congenital Diaphragmatic Hernia: A Major Challenge for Neonatologists

Ontogenetic and Pathogenetic Views on Somatic Chromosomal Mosaicism

Contact Info

Product

Resources

About