Keywords: Developmental delay Microarray analysis Mosaicism Trisomy 12p Twins Issue Date: Jul-2013 Citation: Lim, E.C.P., Ng, I.S.L., Yong, M.-H., Yon, H.-Y., Brett, M.S.Y., Tan, E.-C. (2013-07). [scholarbank.nus.edu.sg]

Patients usually have varying degrees of epilepsy, developmental delays, intellectual impairment, autistic spectrum disorders and minor dysmorphic features. [epilepsydiagnosis.org]

Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental delay and intellectual disability. [1] Most cases are not inherited, but [rarediseases.info.nih.gov]

Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry. [mendelian.co]

111,777,957 111,758,031 111,777,957 19,926 5p15.33-p15.2 123450 CRI-DU-CHAT etc See Zhang X et al, 2005 ) 5p15.33-p15.32 speech delay CR 3.2 Mb D5S417-D5S635 chr5:3,074,203-3,274,461 - chr5:6,265,580-6,465,938 3,274,461 6,265,580 2,991,119 5p15.32-p15.31 cat cry [ngrl.org.uk]

Infants with this condition often have a high-pitched cry that sounds like that of a kitten, microcephaly, low birth weight, and hypotonia, 22 not reported by patient's parents (evaluated with 1 year). [jped.elsevier.es]

In addition, less frequently, facial dysmorphisms, recurrent infections, CHD, and difficult feeding 28 have been observed, in common with this patient. The patient had BAV, aortic ectasia, and sinus of Valsalva. [jped.elsevier.es]

puberty Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss Cerebellar ataxia, Cayman type Cerebellar ataxia - hypogonadism Cerebellar ataxia - ectodermal dysplasia Cerebellar ataxia with peripheral neuropathy Cerebellar [sanfordresearch.org]

difficulties Redundant skin Frontal bossing Abdominal distention Polyhydramnios Cleft palate Narrow chest Short neck Joint hyperflexibility Short philtrum Abnormality of the pinna Mitral valve prolapse Abnormality of the fingernails Turricephaly Brisk [mendelian.co]

PROGEROID SYNDROME, PETTY TYPE Is also known as petty syndrome; petty-laxova-wiedemann syndrome Related symptoms: Short stature Strabismus Failure to thrive Epicanthus Intrauterine growth retardation SOURCES: SCTID UMLS ORPHANET More info about PROGEROID [mendelian.co]

Chromosome abnormalities in congenital heart disease. Am J Med Genet. 1997; 70:292-8. Rauch R, Hofbeck M, Zweier C, Koch A, Zink S, Trautmann U, et al. Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot. [revistascientificas.una.py]

Abstract Objective To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). [jped.elsevier.es]

disease and global developmental delay. [karger.com]

Diseases related with Low-set ears and Broad forehead In the following list you will find some of the most common rare diseases related to Low-set ears and Broad forehead that can help you solving undiagnosed cases. [mendelian.co]

Deletions in 4q are rare and are associated with intellectual disability, craniofacial dysmorphisms, low-set ears, cleft palate, CHD, and fifth finger anomalies. 26 This patient presented most of these characteristics, with exception of low-set ears and [jped.elsevier.es]

Triangular-shaped face Down-slanting palpebral fissures Ptosis (drooping of the upper eyelid) Strabismus (48%) (“crossed eyes”) 4 Amblyopia (33%) (“lazy eye” e.g. reduced vision in one eye) 4 Refractive errors (61%) 4 Hypertelorism (unusual distance between eyes) Low-set [centogene.com]

Trisomy P12 Consisting Of Pure And Complete Trisomies With Additional Trisomies Or Monosomies Of The Short Arm Of An Acrocentric Chromosome. Category Iv And V. [neo-genetics.com]

Chromosome 12p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 12. [rarediseases.info.nih.gov]

Chromosome analysis showed a male karyotype with an isochromosome for the short arm of chromosome 20 and translocation of the chromosome 20 long arm to the short arm of one chromosome 4 (fig 4 A). [jmg.bmj.com]

Five of the eighty G-banded metaphases examined had extra material on the terminal short arm of chromosome 12. G-banding suggested that it might be a translocation from chromosome 21 or a duplication of 12p. Both parental chromosomes were normal. [ashg.org]

Tsai AC, Digiovanni M, Walton C, Cotter PD: De novo duplication of the short arm of chromosome 12: dup(12)(p13.1p13.3). Am J Med Genet A 134A:229-230 (2005). [karger.com]

Features that often occur in people with chromosome 12p duplication include macrocephaly (unusually large head), abnormal muscle tone, characteristic facial features, developmental delay and intellectual disability. [1] Most cases are not inherited, but [rarediseases.info.nih.gov]

VISCERAL MYOPATHY High match CHROMOSOME 5p13 DUPLICATION SYNDROME 5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly [mendelian.co]

Join now to see the full profile Publications & Presentations PubMed De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. Helbig, K. L.,Lauerer, R. J.,Bahr, J. C. [doximity.com]

Johnson Duplication of the distal part of the long arm of chromosome 1 [10.] P. Kiss, J. Imrei Trisomy 1q Clin Genet, 36 (1989), pp. 75-76 [11.] R.M. Lieberfarb, W.R. Breg, L. Atkins, L.B. [analesdepediatria.elsevier.es]

Chromosome analysis showed a male karyotype with an isochromosome for the short arm of chromosome 20 and translocation of the chromosome 20 long arm to the short arm of one chromosome 4 (fig 4 A). [jmg.bmj.com]

[…] facial features Peripheral axonal neuropathy Sparse eyebrow Arthropathy Absent eyebrow Motor axonal neuropathy Neuropathic arthropathy Depressed nasal ridge Acrania Mandibular prognathia Tricuspid regurgitation Arrhythmia Delayed skeletal maturation Dolichocephaly [mendelian.co]

He sustained a Colles (distal radial) fracture when 9 years old. Bone densitometry scans confirmed the osteopenia and showed improvement (though not achieving normal levels) during puberty. [jmg.bmj.com]

eyebrow Arthropathy Absent eyebrow Motor axonal neuropathy Neuropathic arthropathy Depressed nasal ridge Acrania Mandibular prognathia Tricuspid regurgitation Arrhythmia Delayed skeletal maturation Dolichocephaly Long face Abnormality of the skin Prominent [mendelian.co]

PKS was characterized by profound psychomotor retardation, inability to sit or speak, seizures, and joint contractures. [ashg.org]

Chromosome 12P Duplication Syndrome Duplication of the short arm of chromosome 12 with multiple congenital abnormalities consisting of characteristic facies, increased birth weight, severe psychomotor retardation, and occasional postpartum asphyxia. [neo-genetics.com]

retardation and generalized hypotonia, (3) peculiarly round face with prominent cheeks, hypertelorism, epicanthus, broad, flat nasal bridge, short nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of [link.springer.com]

retardation and extrapyramidal signs. [academic.oup.com]

Although some patients may have microcephaly, intellectual impairment (two thirds of patients) and behavioral disorders, there are few distinctive clinical features that aid identification of this syndrome. Dysmorphic features are not expected. [epilepsydiagnosis.org]

The Sub-Band 12P11-21 May Be Associated With The Acrocallosal Syndrome Nose Short Nose With Broad Bridge And Anteverted Nostrils Long Philtrum Thorax Accessory Nipples Cardiovascular System Hypoplastic Heart And Systolic Heart Murmur Neck Short Neck Muscles [neo-genetics.com]

nose with anteverted nostrils, large philtrum, broad, prominent lower lip, and (4) poly(syn)dactyly of feet. [link.springer.com]

nose Microphthalmia Polydactyly Cleft lip Cleft upper lip Abnormality of the kidney Failure to thrive Thick eyebrow Muscular hypotonia Arachnodactyly Hyperlordosis Attention deficit hyperactivity disorder Hypermetropia Short foot Small hand Small nail [mendelian.co]

nasal bridge Intellectual disability, mild Adducted thumb Aortic regurgitation Long fingers Short palpebral fissure Premature skin wrinkling Bulbous nose Thin calvarium Agenesis of corpus callosum Upslanted palpebral fissure Brachycephaly Sporadic Blepharophimosis [mendelian.co]

nose Thin calvarium Agenesis of corpus callosum Upslanted palpebral fissure Brachycephaly Sporadic Blepharophimosis Craniosynostosis Small for gestational age Astigmatism Stereotypy Calcaneovalgus deformity Sleep disturbance Hypotelorism Dermal translucency [mendelian.co]

Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes). [mendelian.co]

Sparse hair Epicanthus Anteverted nares Myopia Downslanted palpebral fissures Microcephaly Autosomal dominant inheritance Pulmonic stenosis Ptosis Abnormality of cardiovascular system morphology High palate Scoliosis Rare Symptoms - Less than 30% cases Cryptorchidism [mendelian.co]

[…] anomalies include duplicated urinary tract and hydronephrosis, 20 bilateral polycystic kidneys, 8 25 ectopic kidney, 24 and duplication of the left renal collecting system. 2 Hypospadias, as seen here, has been reported in two previous cases. 20 26 Cryptorchidism [jmg.bmj.com]