Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region

Duplication 12p and Pallister–Killian syndrome: A case report and review of the literature toward defining a Pallister–Killian syndrome minimal critical region

Source :

• American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2012-12.

English descriptors

• Teeft :
  • American journal, Anomaly, Anteverted, Anteverted nares, Anteverted nares cases, Bossing, Bossing round face, Case report, Case reports, Case1, Case2, Cell cycle arrest, Centile, Cheeks turricephaly, Chromosomal, Chromosomal region, Chromosome, Clin, Congenital heart defect, Congenital heart defects, Core phenotype, Corpus callosum, Critical region, Deletion, Developmental delay, Diaphragmatic hernia, Dufke, Duplication, Duplication cases, Duplication table, Epicanthus cases, Eyelash ptosis blephalophimosis strabismus nystagmus, Facial, Facial anomalies, Frontal bossing, Full cheeks, Full cheeks cases, Genet, Genet part, Genu valgum, Gregori, Hansteen, Hansteen case, Hearing loss, Huang, Human genetics, Hyperextensibility growth macrosomia, Ing4, Intellectual impairment, Interstitial duplication, Interstitial duplications, Inverted tandem duplication, Liang, Liang propositus, Literature review, Marker chromosome, Medical genetics part, Mental retardation, Mosaic state, Mouth micrognathia prognathism, Mouth philtrum, Naris, Nasal bridge cases, Neck heart, Neurological, Neurological phenotype, Overfolded helix, Parslow, Parslow case1 table, Parslow case2, Partial duplications, Partial tetrasomy, Phenotype, Phenotypic, Phenotypic features, Philtrum, Philtrum cases, Pigmentary skin differences, Poor weight gain, Posterior angulation, Prominent bossing cases, Prominent forehead, Proposita, Rauch, Rauch case2, Risk factor, Rivera, Short arms, Short ears, Short neck, Short nose, Short nose cases, Sparse eyebrows, Sparse scalp hair, Ssure downslanted palpebral, Stengelrutkowski, Stengelrutkowski case1, Stengelrutkowski case2, Supernumerary isochromosome, Sure epicanthus, Syndrome, Talus valgus, Tetrasomy, Translocation, Trisomy, Unbalanced translocation, Unbalanced translocations, Upslanted palpebral, Valgus, Ventricular system, Vermeesch, Wiley periodicals, Zumkeller.

Abstract

• https://api.istex.fr/ark:/67375/WNG-QN7CZXCK-Z/fulltext.pdf

Affiliations:

• États-Unis
• Caroline du Nord, Pennsylvanie

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