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.
- Chromosome 10, Trisomy 10q2
- Chromosome 10, Partial Trisomy 10q24-qter
- Distal Duplication 10q
- Dup(10q) Syndrome
- Distal Trisomy 10q Syndrome
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
Support Organization for Trisomy 18, 13, and Related Disorders
2982 South Union Street
Rochester, NY 14624-1926
FACES: The National Craniofacial Association
P.O. Box 11082
Chattanooga, TN 37401
Forward Face, Inc.
317 East 34th Street
New York, NY 10016
National Organization for Rare Disorders, Inc.
55 Kenosia Ave
PO Box 1968
Danbury, CT 06813-1968
Congenital Heart Anomalies, Support, Education, & Resources
National Craniofacial Foundation
3100 Carlisle Street
Dallas, TX 75204
NIH/ Office of Rare Diseases
NIH/National Heart, Lung and Blood Institute Information Center
P.O. Box 30105
Bethesda, MD 20824-0105
NIH/National Kidney and Urologic Diseases Information Clearinghouse
9000 Rockville Pike
Bldg 31 Rm 8A52A
Bethesda, MD 20852
UNIQUE - Rare Chromosome Disorder Support Group
P.O. Box 2189
Surrey, Intl CR3 5GN
Tel: 4401883 330766
Fax: 4401883 330766
Craniofacial Foundation of America
975 East Third Street
Chattanooga, TN 37403
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 http://www.rarediseases.org/search/rdblist.html
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 www.rarediseases.org or email firstname.lastname@example.org
Last Updated: 1/19/2001
Copyright 1997, 2000, 2001 National Organization of Rare Disorders, Inc.
Studies and abstracts:
Department of Pathology, Medical College of Georgia, Augusta, GA 30912, USA. email@example.com
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
Partial proximal 10q trisomy: a new case associated with biliary atresia.
Hereditas. 2007 Nov
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
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
Clinical Genetics department, Belfast City Hospital, Belfast, UK. Tabib.Dabir@bch.n-i.nhs.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.
Trisomy 10 mosaicism and maternal uniparental disomy 10 in a liveborn infant with severe congenital malformations.
Am J Med Genet A. 2005 Oct
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.
Distal trisomy 10q/partial monosomy 14q: an unusual clinical picture.
Genet Couns. 2005
Department Obstetrics and Gynecology, University Medical Centre Ljubljana, Ljubljana, Slovenia. firstname.lastname@example.org
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.
PMID: 10327147 [PubMed - indexed for MEDLINE]
...............................Partial trisomy 10 mosaicism with cutaneous manifestations: report of a case and review of the literature.
PMID: 9007335 [PubMed - indexed for MEDLINE]
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