Trisomy Disorders

Trisomy 8

Posted on: October 30, 2008

Syndrome chromosome 8 trisomy syndrome

Synonyms Warkany syndrome 2 8 trisomy trisomy 8

Formerly Known C trisomy C8 trisomy chromosome C trisomy trisomy C syndrome

Personalia Warkany, Josef (American human geneticist, 1902-1992)

 MeSH Chromosomes, Human, Pair 8 Trisomy

Summary Trisomy of chromosome 8 with retarded psychomotor development, long and narrow trunk, dysmorphic facies with blank expression, musculoskeletal defects, eye anomalies, and visceral and other abnormalities.

Major Features

Head and neck: Expressionless facies, micrognathia, and prominent forehead. Ears: Large dysplastic ears with prominent anthelices and large sometimes low-set lobules. Eyes: Deeply set eyes, microphthalmia, strabismus, hypertelorism, corneal opacity, cataract, heterochromia, and downslanting palpebral fissures. Nose: Broad upturned nose. Mouth and oral structures: Everted lips, highly arched or cleft palate, and stretched lingual frenulum. Neck: Short sometimes webbed neck. Thorax: Pectus carinatum. Hand and foot: Camptodactyly, clinodactyly, and short metacarpal and metatarsal bones. Deep palmar and plantar furrows, low ridge count, large number of associations of both arches and whorls on the fingertips, and high palmar and plantar pattern intensity are the dermatoglyphic findings. Extremities: Absent or dysplastic patellae, multiple joint contractures, coxa valga, and abnormal diaphyses and epiphyses of radial, femoral, and humeral bones. Spine: Kyphoscoliosis, hemivertebrae, fusion of vertebrae, spina bifida, and broad dorsal ribs. Nervous system: Occasional agenesis of corpus callosum. Cardiovascular system: Septal defects and great vessel anomalies. Urogenital system: Hydronephrosis, ureteral reflux, cryptorchidism, and malrotation or absence of gallbladder. Growth and development: Speech, moderate mental, and occasional growth retardation. Heredity: Complete trisomy 8 is a frequent cause of first trimester abortions. Live-born infants usually have trisomy 8 mosaicism (XXY or XX/XXY mosaicism) Some cases are associated with tetraploidy and trisomy 21. Additional features: Elongated thin trunk with narrow shoulders, chest, and pelvis. Thin elongated trunk.

Historical References Warkany J et al Mental retardation, absence of patella, other malformations with chromosomal mosaicism. J Pediat, 1962, 61:803-11

Bibliography Annerén G et al Trisomy 8 syndrome. The rib anomaly and some new features in two cases. Helv Paediat Acta, 1981, 36:465-72 [MEDLINE] Bijlsma JB et al C8 trisomy mosaicism syndrome. Helv Paediat Acta, 1972, 27:281-98 [MEDLINE] Burd L et al A case of autism and mosaic of trisomy 8. J Autism Dev Disord, 1985, 15:351-2 [MEDLINE] Casey PA et al 46,XY/48,XXY,+8 in a male with clinical and dermatoglyphic features of mosaic trisomy syndrome. Clin Genet (Copenhagen), 1981, 20:60-3 [MEDLINE] Casperson T et al Four patients with trisomy 8 identified by the fluorescence and Giemsa banding techniques. J Med Genet (London), 1972, 9:1-7 [MEDLINE] Chandley AC et al Trisomy 8. Report of a mosaic human male with near-normal phenotype and normal IQ ascertained through infertility. Hum Genet (Berlin), 1980, 55:31-8 [MEDLINE] Frangoulis M, Taylor D Corneal opacities: A diagnostic feature of the trisomy 8 mosaic syndrome. Brit J Ophth, 1983, 67:619-22 Gagliardi ART et al Trisomy 8 syndrome. J Med Genet (London), 1978, 15:70-3 [MEDLINE] Jacobsen P et al The trisomy 8 syndrome. Report of two further cases. Ann Génét (Paris), 1974, 17:87-94 Kakati S et al An attempt to establish trisomy 8 syndrome. Humangenetik, 1973, 19:293-300 [MEDLINE] Kurytka ZE et al Trisomy 8 mosaicism 8 syndrome. Two cases demonstrating variability in phenotype. Clin Pediat, 1988, 27:557-64 [MEDLINE] Mino M et al Chromosome 8 trisomy mosaic syndrome. Jinrui Ideng Zasshi, 1976, 21:69-78 Moerman F et al Complete trisomy 8 in a polymalformed newborn. Acta Paediat Belg, 1979, 32:283-5 Nakamura Y et al Bilateral cystic nephroblastoma and multiple malformations with trisomy 8 mosaicism. Hum Path, 1985, 16:754-6 [MEDLINE] Niss R, Passarge E Trisomy 8 restricted to cultured fibroblasts. J Med Genet (London), 1976, 13:229-32 [MEDLINE] Pai GS et al Syndromes due to chromosomal abnormalities: Partial trisomy 22, interstitial deletion of the long arm of 13, and trisomy 8. Johns Hopkins Med J, 1979, 145:162-9 [MEDLINE] Riccardi VM Trisomy 8: An international study of 70 patients. Birth Defects, 1977, 13(3C):171-84 [MEDLINE] Riccardi VM et al Acute leukemia associated with trisomy 8 mosaicism and familial translocation 46,XX,t(7;20)(p13;p12). Am J Med Genet, 1978, 2:15-21 [MEDLINE] Roberts HE et al Unique mosaicisms of tetraploidy and trisomy 8: Clinical, cytogenetic, and molecular findings in a live-born infant. Am J Med Genet, 1996, 62:243-6 [MEDLINE] Rothmund H et al Familial transmission of a small supernumerary marker chromosome 8 identified by FISH: An update. Am J Med Genet, 1997, 72:339-42 [MEDLINE] Schaumann B et al Dermatoglyphics in trisomy 8 mosaicism. Hum Genet (Berlin), 1974, 24:201-5 Schinzel A et al Trisomy 8 mosaicism syndrome. Helv Paediat Acta, 1974, 29:531-40 [MEDLINE] Silengo MC et al Radiological features in trisomy 8. Pediat Radiol, 1979, 8:116-8 [MEDLINE] Sperber MA Schizophrenia and organic brain syndrome with trisomy 8 (group-C trisomy 8 47,XX,8+). Biol Psychiat, 1975, 10:27-43 Tegenkamp T et al Sex selection in a 45,X,-X/48,XYm+X,+8 mosaic pseudo true hermaphrodite with multiple anomalies. Am J Hum Genet, 1980, 32:133A Theilgaard A et al Trisomy 8 syndrome. A psychological and somatic study of a mentally non-retarded male with 46,XY/47,XY,+8 chromosome constitution. Clin Genet (Copenhagen), 1979, 12:227-32 Wilson MG et al Double autosomal trisomy and mosaicism for chromosomes No. 8 and No. 21. J Med Genet (London), 1974, 11:96-101 [MEDLINE]

Additional Links:

Human Chromosome 8 Homepage
The University of Houston.This page is an attempt consolidate information and resources on the physical and genetic mapping of human chromosome 8, as well as information on chromosome 8 specific genetic diseases current of interest to my research group …

Cytogenetic and molecular evidence of constitutional mosaic trisomy 8 … in a phenotypically normal woman
J. Meck et al. As a constitutional abnormality the phenotype ranges from normal to severe. Trisomy 8 is also an acquired chromosome abnormality common in myeloid disorders …

Genes, Location and Genetic Disorders on Chromosome 8
Provides as a table form. Gene, GDB AccessionID, Location, OMIM Link. Lopecia universalis, Osteopetrosis with renal Tubular Acidosis, Cohen Syndrome, Exostoses Multiple … 

Langer-Giedion Sindrome; LGS
Trichorinophalangeal Syndrome, TypeII; TRPS2; LGCR. This disorder has similarities to the trichorhinophalangeal syndrome type I (190350) …  bulbous nose, sparse hair, and cone-shaped epiphyses … mental retardation, microcephaly, multiple exostoses, and redundant skin. Less consistent features include hyperextensible joints … 

Tricorhinophalangeal Syndrome, Tipe I; TRPS1 or Giedion Syndrome
Giedion (1966) delineated a syndrome consisting of thin and slowly growing hair, pear-shaped nose with high philtrum, brachyphalangy with deformation of the fingers and wedge-shaped epiphyses … rearrangement of 8q in which persons with the chromosome abnormality had manifestations of both TRPS and the branchiootic syndrome …

Tricorhinophalangeal Syndrome, Tipe III; TRPS3
SUGIO-KAJII SYNDROME. a kindred in which 9 persons in 4 generations showed a syndrome of sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening … differentiated from Ruvalcaba syndrome by the absence of mental retardation and microcephaly and the presence of other changes resembling those of trichorhinophalangeal syndrome …

[P][S] HUGO, Chromosome 8
Chromosome Specific Sites, Chromosome Resources, DNA Sequencing …

[P] +8 or trisomy 8 and related diseases
Chronic myelogenous leukaemia (CML) … +8 has apparently no prognostic significance in CML … other chronic myeloproliferative diseases : polycytemia vera (PV), and idiopathic myelofibrosis (but not found in essential thrombocythemia) … +8 is found in 20% of PV cases with an abnormal karyotype …

[French] Trisomie partielle 8
La stature physique des personnes atteintes de la trisomie 8 est souvent courte et leur tronc est élancé et étroit. Auniveau du visage, on remarque certaines particularités. Le front est proéminent et le crâne est dysmorphique. On remarque également une micrognathie (petitesse exagérée de la mâchoire) et la lèvre inférieure est retournée dans la moitié des cas, environ. Au niveau des yeux il y a un hypertélorisme (augmentation anormale de l’espace entre les yeux) accompagné de strabisme …

National Parent to Parent Network
What is Parent-to-Parent Matching?… MUMS Data Base List of Disorders …

[S] Chromosome Deletion Outreach
Chromosome Deletion Outreach is a non-profit, all volunteer, parent support organization founded in 1992. Our membership consists of individuals, families and professionals seeking information regarding a variety of chromosome disorders….

Trisomy 8
By a parent. “He is nonverbal there-fore we are signing to him”… ” his IQ is below 50″…

[S] Chromosome and Genetic Links
General Information, Chromosome and Genetic web sites

[S] Unique, Rare Chromosome Disorder Support Group
A source of information, mutual support and self-help to families of children with any rare chromosome disorders including deletions, trisomy, balanced translocations …

[S] Canadian Directory of Genetic Support Groups
Canadian Association of Genetic Counsellors …  June 30, 1998 …

Chromosome 8 trisomy syndrome
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. National Library of Medicine. Trisomy of chromosome 8 with retarded psychomotor development, long and narrow trunk, dysmorphic facies with blank expression, musculoskeletal defects, eye anomalies, and visceral and other abnormalities … Head and neck: Expressionless facies, micrognathia, and prominent forehead … Mouth and oral structures: Everted lips, highly arched or cleft palate, and stretched
lingual frenulum … Cardiovascular system: Septal defects and great vessel anomalies … Growth and development: Speech, moderate mental, and occasional growth retardation …

[Ukrainian] Langer-Giedion Syndrome
A fact sheet for specialists in Ukrainian.
Main diagnostic criteria … Etiology … Clinical features … Associated anomalies … Differential diagnosis … Prognosis … OMIM number …

[Ukrainian] Chromosome 8 Trisomy
A fact sheet for specialists in Ukrainian.
Synonyms … Main clinical features and symptoms… Associated anomalies … Prevalence … Diagnosis … Prognosis …

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