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Chromosome 10, Distal Trisomy 10q

It is possible that the main title of the report Chromosome 10, Distal Trisomy 10q is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision covered by this report.


Disorder Subdivisions

General Discussion

Chromosome 10, Distal Trisomy 10q is an extremely rare chromosomal disorder in which the end (distal) portion of the long arm (q) of one chromosome 10 (10q) appears three times (trisomy) rather than twice in cells of the body. The disorder is characterized by unusually slow growth before and after birth (prenatal and postnatal growth retardation); abnormally diminished muscle tone (hypotonia); severe mental retardation; and severe delays in the acquisition of skills requiring coordination of mental and muscular activities (psychomotor retardation). Affected infants and children may also have distinctive malformations of the head and facial (craniofacial) area; defects of the hands and/or feet; and/or skeletal, heart (cardiac), kidney (renal), and/or respiratory (pulmonary) abnormalities. The range and severity of symptoms and physical findings may vary from case to case, depending upon the exact length and location of the duplicated portion of chromosome 10q. In most cases, Chromosome 10, Distal Trisomy 10q is due to a chromosomal balanced translocation in one of the parents.


Children's Craniofacial Association
13140 Coit Road
Dallas, TX 75240
Tel: (214)570-9099
Fax: (214)570-8811
Tel: (800)535-3643

Support Organization for Trisomy 18, 13, and Related Disorders
2982 South Union Street
Rochester, NY 14624-1926
Tel: (716)594-4621
Fax: (716)594-4621
Tel: (800)716-7638

FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga, TN 37401
Tel: (423)266-1632
Fax: (423)267-3124
Tel: (800)332-2373

Forward Face, Inc.
317 East 34th Street
Room 901
New York, NY 10016
Tel: (212)684-5860
Fax: (212)684-5864
Tel: (800)393-3223

National Organization for Rare Disorders, Inc.
55 Kenosia Ave
PO Box 1968
Danbury, CT 06813-1968
Tel: (203)744-0100
Fax: (203)798-2291
Tel: (800)999-6673
TDD: (203)797-9590

Congenital Heart Anomalies, Support, Education, & Resources

National Craniofacial Foundation
3100 Carlisle Street
Suite 215
Dallas, TX 75204
Tel: (800)535-3643

NIH/ Office of Rare Diseases

NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
Tel: (301)592-8573
Fax: (301)251-1223

NIH/National Kidney and Urologic Diseases Information Clearinghouse
9000 Rockville Pike
Bldg 31 Rm 8A52A
Bethesda, MD 20852
Tel: (301)651-4415
Fax: (301)907-8906
Tel: (800)891-5390

UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey, Intl CR3 5GN
United Kingdom
Tel: 4401883 330766
Fax: 4401883 330766

Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
Tel: (423)778-9192
Fax: (423)778-8172
Tel: (800)418-3223



Distal Trisomy 10q Families



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report.

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site or email

Last Updated:  1/19/2001
Copyright  1997, 2000, 2001 National Organization of Rare Disorders, Inc.


Studies and abstracts:


Isolated trisomy 10 in an infant with acute myeloid leukemia: a case report and review of literature.

Aug, 17, 2011
Yuan J, McDonough C, Kulharya A, Ramalingam P, Manaloor E.


Department of Pathology, Medical College of Georgia, Augusta, GA 30912, USA.


Trisomy 10 as the sole cytogenetic abnormality in AML is rare, with an incidence rate of < 0.5%. It tends to affect the elderly and is extremely rare in pediatric patients. We describe a case of an 8-month-old Caucasian baby who presented with prominence of left eye and fever without lymphadenopathy or hepatosplenomegaly. Bone survey showed diffuse periosteal reaction in the femur, pelvis, maxillary and orbital bones (with fracture). CBC revealed normal white blood cell count with increased blasts, mild anemia and moderate thrombocytopenia. Bone marrow biopsy showed increased myeloblasts with bilineage dysplasia and 3-4+ reticulin fibrosis. Flow cytometry revealed blasts positive for CD34, CD33, and MPO and negative for CD7, CD13, and HLA-DR. Trisomy 10 was demonstrated by chromosome analysis and fluorescence in-situ hybridization. The patient received induction chemotherapy and achieved complete clinical and hematologic remission at day 28. However, he relapsed after three cycles of chemotherapy. Compared to the two other reported pediatric cases, our patient has some unique features such as much younger age and additional findings such as bilineage dysplasia and bone marrow fibrosis. Both reported cases and our case were classified as AML-M2 indicating that this may be a common subtype in pediatric patients. Bone involvement was present in our patient and one other case and both had similar immunophenotype (CD33+, CD7-). These findings suggest that isolated trisomy 10 may be associated with distinct clinicopathologic features in pediatric AML. Studies on additional patients are needed to establish this association.

Partial proximal 10q trisomy: a new case associated with biliary atresia.

Hereditas. 2007 Nov

Lysy PA, Sibille C, Gillerot Y, Smets F, Sokal EM.

Gastroenterology and Hepatology Unit, HPED Department, Université Catholique de Louvain & Cliniques Saint Luc, Brussels, Belgium.

Herein we describe a unique case of partial proximal 10q trisomy presenting biliary atresia, anal anteposition and cardiac malformation. The 10q duplication was confirmed by G banding on prophase chromosomes. A review of the literature confirmed that the patient displayed characteristic dysmorphic features of the recently defined partial proximal trisomy 10q syndrome and emphasized the interindividual variability of visceral malformations.

PMID: 18031353 [PubMed - indexed for MEDLINE]


Trisomy 10p and translocation of 10q to 4p associated with selective dysgenesis of IgA-producing cells in lymphoid tissue.

Pathol Int. 2007 Jan

Saiga T, Hashimoto K, Kimura N, Ono H, Hiai H.

Departments of Pathology, Ohtsu Red Cross Hospital, Nagara, Ohtsu, Japan.

A combined chromosomal abberation trisomy of the short arm of chromosome 10 associated with translocation of 10q to chromosome 4p was found in a 14-month-old boy, who died after repeated bouts of pneumonia. The translocation involved the target region 4p16.3 of Wolf-Hirschhorn syndrome and/or Pitt-Rogers-Danks syndrome. The karyotype was 46,XY,der(4)t(4;10)(p16;q11.2),i(10)(p10),ish der(4)t(4;10)(p16.3;q11.2) (D4S96+,D4Z1+),i(10) (pter ++). In addition to growth retardation and external as well as internal dysmorphism, the patient had abnormalities of the immune system, such as thymic involution, generalized lymph node enlargement, unusual distribution of T cells in lymphoid follicles, and selective IgA deficiency. The IgA-producing cells were rarely found in lymph nodes but normally in intestinal mucosa. In contrast, in the lymph nodes, the paracortical T-lymphocytes were hyperplastic, but they rarely entered the primary follicles. It is assumed that the chromosomal abnormality may lead to the dysfunction of T lymphocytes and, further, to the dysgenesis of IgA-producing cells in lymph nodes but not in intestinal mucosa. This suggests that the thymus may differentially control the subsets of IgA-producing cells in lymph nodes and intestinal mucosa.

PMID: 17199741 [PubMed - indexed for MEDLINE]


Trisomy 10p with clinical features of facio-auriculo-vertebral spectrum: a case report.

Clin Dysmorphol. 2006 Jan

Dabir TA, Morrison PJ.

Clinical Genetics department, Belfast City Hospital, Belfast, UK.

We report a male child born with complete absence of his external ear, hemifacial microsomia of the right side, high arched palate, a down-turned upper lip and slightly up-slanting palpebral fissures. The features were suggestive of facio-auriculo-vertebral spectrum. Investigations showed a tandem duplication of the short arm of one chromosome 10 with apparent breakpoints at p14 and p15. This case extends the list of chromosomal abnormalities associated with the facio-auriculo-vertebral phenotype and also adds useful clinical information to possible trisomy 10p phenotypes.

Lippincott Williams & Wilkins


Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations.

Am J Med Genet A. 2005 Oct

Hahnemann JM, Nir M, Friberg M, Engel U, Bugge M.

Medical Genetics Laboratory Centre, The John F Kennedy Institute, Glostrup, Denmark.

We report on a liveborn infant with trisomy 10 mosaicism combined with maternal uniparental heterodisomy for chromosome 10. The mosaicism 47,XY,+10/46,XY was found in five different tissues, including one blood sample, while cultured lymphocytes from two other blood samples showed a normal karyotype, 46,XY. DNA analysis with six PCR-based microsatellite markers demonstrated the trisomic cell line to be a result of maternal meiotic nondisjunction, and revealed maternal uniparental heterodisomy in the diploid cell line, suggesting that the formation of the diploid cell line was due to trisomy rescue. The boy had severe growth retardation, major dysmorphism, and malformations, and died at 37 days. We reviewed the previous nine reports of infants and fetuses with trisomy 10 mosaicism reported in the literature. We suggest that a common clinical syndrome can be defined comprising skull, jaw and ear abnormalities, cleft lip/palate, malformations of eyes, heart and kidneys, deformity of hands and feet, and most often death neonatally or in early infancy. The cytogenetic findings in the present patient demonstrate the importance of karyotyping more than one tissue, and not only lymphocytes, when a chromosomal aberration is strongly suspected. (c) 2005 Wiley-Liss, Inc.

Wiley Interscience


Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.

Genet Couns. 2005

Bregant L, Gersak K, Veble A.

Department Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slovenia.

A case of twin boy with partial trisomy for the distal part of the long arm of chromosome 10 (10q24-->qter) and a concomitant monosomy 14(q32-->qter) is reported. The chromosomal abnormalities resulted from a paternal balanced translocation involving chromosomes 10 and 14. An additional clinical feature was observed, viz. hypoplastic lungs. The proband's phenotype was compared to previously reported patients with partial trisomy 10q or 14q deletion.

PMID: 15844780 [PubMed - indexed for MEDLINE]


Fetal trisomy 10 mosaicism: ultrasound, cytogenetic and morphologic findings in early pregnancy.

Knoblauch H, Sommer D, Zimmer C, Tennstedt C, Heling K, Bollmann R, Bommer C, Tinschert S, Korner H.

Institut fur Medizinische Genetik, Universitatsklinikum Charite, Berlin, Germany.

We report the ultrasound, cytogenetic and morphologic findings in a case of trisomy 10 mosaicism prenatally detected by chorionic villus sampling (CVS). CVS sampling was carried out at the 13th week of gestation because of ultrasound diagnosis of hydrops fetalis and hygroma colli. Trisomy 10 mosaicism was diagnosed in cells from the cytotrophoblast (short-term culture) and the chorionic villus core (long-term culture). Fetal mosaicism was confirmed after termination of pregnancy in umbilical cord cells, placenta and fetal skin fibroblasts.

Publication Types:

PMID: 10327147 [PubMed - indexed for MEDLINE]


Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature.

Boon C, Markello T, Jackson-Cook C, Pandya A.

Department of Human Genetics, Medical College of Virginia Richmond, USA.

A female infant with partial trisomy 10 mosaicism and hypomelanosis of Ito is presented. Features include a prominent forehead, hypertelorism, large dysplastic ears, prominent nasal root, a cleft lip and alveolar ridge, bilateral metatarsus adductus, and streaks and whorls of hypopigmented skin. The skin findings were diagnostic for hypomelanosis of Ito. A peripheral blood karyotype was normal. Fibroblasts from a junctional skin biopsy revealed mosaicism for partial trisomy of chromosome 10 [46, XX/47, XX, +del(10) (q11.2q23.2)]. The physical findings of this patient are compared to five published cases of complete trisomy 10 mosaicism and 94 cases of isolated trisomy 10p and trisomy 10q.

Publication Types:

PMID: 9007335 [PubMed - indexed for MEDLINE]


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