Cardiac manifestations of Pallister–Killian syndrome

Tilton, Richard K.; Wilkens, Alisha; Krantz, Ian D.; Izumi, Kosuke

doi:10.1002/ajmg.a.36413

Cited by 23 publications

(15 citation statements)

References 23 publications

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“…Although the molecular pathogenicity of heart defects in PKS remains poorly understood, a few genes required for cardiomyocyte proliferation and myocardial growth, including FOXM1, FOXJ2 , and KRAS , are mapped on 12p. Overexpression of these genes has been proposed to impact the cardiac development (Tilton et al, ). The normal cardiac findings in the current patient may represent absence or very low level of trisomy 12 cells in cardiomyocytes.…”

Section: Discussionmentioning

confidence: 99%

Clinical features of trisomy 12 mosaicism—Report and review

Hong

Zunich

Openshaw

et al. 2017

American J of Med Genetics Pt A

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Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies.

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Section: Discussionmentioning

confidence: 99%

Clinical features of trisomy 12 mosaicism—Report and review

Hong

Zunich

Openshaw

et al. 2017

American J of Med Genetics Pt A

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“…Some patients may have seizures. Structural cardiac defects have been reported; however, cardiomyopathy is rarely part of the clinical presentation [Tilton et al, 2014].…”

Section: Discussionmentioning

confidence: 99%

Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism

Toydemir¹,

Panza

Longhurst

et al. 2020

Mol Syndromol

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Pallister-Killian syndrome (PKS) is a rare disorder presenting with developmental delay, numerous dysmorphic features, and skin pigmentation anomalies. It is caused by mosaic tetrasomy of the short arm of chromosome 12. In most instances, tetrasomy is due to a supernumerary isochromosome i(12)(p10). Although mitotic instability is a generally accepted behavior for supernumerary chromosomes, hexasomy 12p due to a gain of an isochromosome 12p, has been hardly ever reported. We report a 10 year follow-up on a girl with 2 copies of isochromosome consisting of the short arm of chromosome 12, who has craniofacial features seen in PKS, such as sparse hair with an unusual pattern, sparse eyebrows, lacrimal duct stenosis, submucous cleft palate, Pallister lip (a relatively long philtrum continuing into the vermillion border of the upper lip), narrow palate, and wide alveolar ridges. She also has other abnormalities, including unilateral renal dysgenesis, rectovaginal fistula, pre-axial polydactyly of the right hand, severe global developmental delay, and hypotonia as well as some features suggestive of mosaicism such as bilateral asymmetry, patchy areas of rough skin, and retinal mottling. Initial cytogenetic studies from peripheral blood showed a normal female karyotype. Further cytogenetic studies on a skin biopsy showed mosaicism with 2 copies of the supernumerary isochromosome 12p.

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“…On the other hand, spina bifida is an abnormality which may accompany to numerical or structural chromosome abnormalities including trisomy (chromosomes 13, 18, 21), triploidy, unbalanced translocation, marker chromosome and ring chromosome 24 . Cardiac malformations may be a component of PKS, atrial and ventricular septum defects being the most frequent with a frequency of 15% 25 . Left ventricular hypoplasia detected in present case has been reported once previously 11 .…”

Section: Discussionmentioning

confidence: 99%

Lumbosacral spina bifida in a case with Pallister-Killian syndrome

Topçu¹,

Çakar²,

Bakir³

et al. 2016

Cumhuriyet Med J

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Pallister-Killian syndrome (PKS) is a rare disorder caused by tissue limited mosaic tetrasomy of 12p. PKS is clinically characterized with facial dysmorphism, mental-motor retardation, hypotonia and internal abnormalities. Most widely seen features include diaphragmatic hernia, rhizomelic upper limbs and cardiac abnormalities. It is diagnosed by means of cytogenetic analysis of amniocytes, chorionic villus, fetal blood lymphocytes or fibroblasts. Cytogenetic analysis of lymph ocytes usually shows up normal result. Here, we report a fetus demonstrating irregular vertebral body alignment, omphalocele and left ventricle hypoplasia detected in fetal ultrasonography eva luation of a woman referred to our hospital at 19-week gestational age because of high risk for neural tube defect in second trimester screening test. Cytogenetic analysis was not performed in chorionic villus or amniocytes. The pregnancy was terminated at 20-week gestational age. PKS was suspected because of the omphalocele and sacral appendage findings in postmortem examin ation. Skin fibroblast culture revealed 47, XY, i (12) (p10) karyotype, confirming the diagnosis. This is the first case of PKS with lumbosacral spina bifida reported. Sacral appendage is a rare finding and reported in few cases. Cytogenetic investigation is the most widely used method to diagnose PKS and is helpful to differentiate PKS from Fryns syndrome that may bear similar clinical findings.

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Cardiac manifestations of Pallister–Killian syndrome

Cited by 23 publications

References 23 publications

Clinical features of trisomy 12 mosaicism—Report and review

Clinical features of trisomy 12 mosaicism—Report and review

Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism

Lumbosacral spina bifida in a case with Pallister-Killian syndrome

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