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Partial deletion of the short arm of chromosome 10

MedGen UID:
162776
•Concept ID:
C0795836
•
Disease or Syndrome
Synonyms: 10p deletion syndrome; 10p Deletion Syndrome (Partial); 10p13-p14 Deletion Syndrome; Chromosome 10, 10p- Partial; Chromosome 10, monosomy 10p; Chromosome 10, Partial Deletion (short arm); Chromosome 10p terminal deletion syndrome; Deletion 10p; Monosomy 10p; Monosomy 10pter
 
Monarch Initiative: MONDO:0016892
Orphanet: ORPHA261938

Definition

Deletion of the short arm of chromosome 10 with retarded psychomotor development and variable abnormalities, including dwarfism, craniofacial dysmorphism (downslanting palpebral fissures, anteverted nostrils, and eye and ear anomalies), deformed hands and feet, cryptorchidism, and dysplasia of the olfactory system. [from MCA/MR]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPartial deletion of the short arm of chromosome 10
Follow this link to review classifications for Partial deletion of the short arm of chromosome 10 in Orphanet.

Professional guidelines

PubMed

The role of comparative genomic hybridisation in prenatal diagnosis.
Thein A, Charles A, Davies T, Newbury-Ecob R, Soothill P
BJOG 2001 Jun;108(6):642-8. doi: 10.1111/j.1471-0528.2001.00139.x. PMID: 11426901

Recent clinical studies

Diagnosis

The role of comparative genomic hybridisation in prenatal diagnosis.
Thein A, Charles A, Davies T, Newbury-Ecob R, Soothill P
BJOG 2001 Jun;108(6):642-8. doi: 10.1111/j.1471-0528.2001.00139.x. PMID: 11426901
The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.
Van Esch H, Groenen P, Fryns JP, Van de Ven W, Devriendt K
Genet Couns 1999;10(1):59-65. PMID: 10191430
DiGeorge syndrome and partial monosomy 10p: case report and review.
Schuffenhauer S, Seidel H, Oechsler H, Belohradsky B, Bernsau U, Murken J, Meitinger T
Ann Genet 1995;38(3):162-7. PMID: 8540688
Cerebellar and brainstem hypoplasia in a child with a partial monosomy for the short arm of chromosome 5 and partial trisomy for the short arm of chromosome 10.
Arts WF, Hofstee Y, Drejer GF, Beverstock GC, Oosterwijk JC
Neuropediatrics 1995 Feb;26(1):41-4. doi: 10.1055/s-2007-979718. PMID: 7791950

Prognosis

Partial trisomy 10p12.33 and partial monosomy 13q32.1: case report and a literature review.
Puvabanditsin S, Garrow E, Lambert G, Botti C, Gowda S, Kathiravan S, Brooks SS
Genet Couns 2011;22(3):263-72. PMID: 22029167

Clinical prediction guides

The phenotypic spectrum of the 10p deletion syndrome versus the classical DiGeorge syndrome.
Van Esch H, Groenen P, Fryns JP, Van de Ven W, Devriendt K
Genet Couns 1999;10(1):59-65. PMID: 10191430
Frequent loss of heterozygosity on chromosome 10q in muscle-invasive transitional cell carcinomas of the bladder.
Cappellen D, Gil Diez de Medina S, Chopin D, Thiery JP, Radvanyi F
Oncogene 1997 Jun 26;14(25):3059-66. doi: 10.1038/sj.onc.1201154. PMID: 9223669
Partial deletion 10p syndrome. Report of two patients.
Obregon MG, Mingarelli R, Giannotti A, di Comite A, Spedicato FS, Dallapiccola B
Ann Genet 1992;35(2):101-4. PMID: 1524405

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