Presentation
The patient presents PDA. [jped.elsevier.es]
Treatment is based on the signs and symptoms present in each person. Last updated: 12/16/2015 [rarediseases.info.nih.gov]
The boy was born with a cleft palate - a feature not present in any of the patients described before. Previously reported cases are reviewed, and the role of the BMPR1A gene is discussed. [unboundmedicine.com]
Página 51 - Selective IgA deficiency: presentation of 30 cases and a review of the literature. Página 188 - Dudding, BA, Gorlin, RJ, and Langer, LO: The oto-palato-digital syndrome. [books.google.es]
A prenatally detected case of a rare mosaic tetrasomy 12p / trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively [nextbio.com]
Entire Body System
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Developmental Delay
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]
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Crying
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]
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Recurrent Infection
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]
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Precocious Puberty
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]
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Feeding Difficulties
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]
Gastrointestinal
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Failure to Thrive
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]
Cardiovascular
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Heart Disease
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]
Ears
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Low Set Ears
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]
Musculoskeletal
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Short Arm
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]
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Macrocephaly
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]
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Long Arm
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]
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Dolichocephaly
[…] 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]
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Fracture
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]
Skin
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Sparse Eyebrows
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]
Psychiatrical
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Psychomotor Retardation
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]
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Behavior Disorder
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]
Face, Head & Neck
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Short Nose
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]
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Depressed Nasal Bridge
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]
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Bulbous Nose
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]
Neurologic
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Sleep Disturbance
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]
Urogenital
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Cryptorchidism
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]
Treatment
Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. [betterhealth.vic.gov.au]
Cytogenetic analysis of pre-treatment bone marrow or peripheral blood was performed locally, reviewed centrally by the Leukaemia Research Cytogenetics Group and collated retrospectively. [nature.com]
Treatment is based on the signs and symptoms present in each person. Last updated: 12/16/2015 [rarediseases.info.nih.gov]
Página 276 - Practice parameter: initiation of treatment for Parkinson's disease: an evidence-based review: report of the Quality Standards Subcommittee of the American Academy of Neurology. [books.google.es]
Buxbaum is part of an international group of scientists who share autism samples, data, and ideas in order to accelerate our understanding of the causes and treatments of autism. Dr. Buxbaum, the G. Harold and Leila Y. [books.google.de]
Prognosis
The phenotype of patients with an LCR3/4-flanked 10q22.3q23.2 deletion can be rather variable, so counseling the families regarding the prognosis of an affected child should be done with caution. [unboundmedicine.com]
Prognosis concerning lung hypoplasia seemed critical with a lung head ratio of [28]. Amniocentesis was performed at 20 weeks and 2 days. [journals.plos.org]
Regardless of trisomy 4 status, patients 60 years had an overall worse prognosis than the paediatric cases. There was no significant interaction between protocol and the effect of trisomy 4. [nature.com]
Etiology
Karyotype assessment is important to consider in all epilepsies where the etiology is uncertain as dysmorphic features may be subtle or not apparent. Karyotype examination should be extended to 50-100 mitoses to exclude mosaicism. [epilepsydiagnosis.org]
Klaassens M, de Klein A, Tibboel D (2009) The etiology of congenital diaphragmatic hernia: still largely unknown? Eur J Med Genet 52: 281–286. View Article Google Scholar 4. [journals.plos.org]
Epidemiology
Wegener, HC, and Tauxe, RV Epidemiology of Campylobacter jejuni infections in the United States and other industrialized nations. [books.google.es]
When combining the results of the epidemiology data on childhood and adult mitochondrial diseases, the minimum prevalence is at least 1 in 5000 and could be much higher [ 1 ]. [academic.oup.com]
Pathophysiology
Chelly J, Khelfaoui M, Francis F, Chérif B, Bienvenu T: Genetics and pathophysiology of mental retardation. Eur J Hum Genet 14:701-713 (2006). [karger.com]
However, such a linear correlation between level of mosaicism and tissue pathophysiology could not be confirmed in our case. [journals.plos.org]
Prevention
Abdul-Rahman 1 1) Dept Preventive Medicine; 2) Dept Pediatrics, Univ of Mississippi Med Ctr, Jackson, MS. Pallister-Killian Syndrome (PKS) was first reported in 1977 with mosaicism in fibroblasts for an extra chromosome composed of 12p. [ashg.org]
But while some things -- like diapers -- are covered by insurance, others -- like the special thickener the MacPhails must buy each month to prevent Ella from aspirating her food and ending up in the hospital -- are not. [stillkickin.co]
The cause of this is unknown and prevention is not possible. The most important risk factor for trisomy disorders is maternal age. Women in their late 30s and 40s are more likely to have babies with trisomy than younger women. [betterhealth.vic.gov.au]
Early monitoring of hearing quality is important for young NS-patients in order to prevent speech abnormalities. Chest/back abnormalities are common in NS-patients in a form of pectus carinatum and/or excavatum and scoliosis. [centogene.com]
NDUFS4 and NDUFS6 are both located in the iron–sulfur fraction of complex I, whose mutations can either prevent complete assembly or destabilize the peripheral arm; the other seven nuclear-encoded subunits ( NDUFS1, NDUFS2, NDUFS3, NDUFS7, NDUFS8, NDUFV1 [academic.oup.com]