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Chromosome 4, Monosomy 4q

Synonyms of Chromosome 4, Monosomy 4q

  • Chromosome 4 Long Arm Deletion
  • Chromosome 4q- Syndrome

Disorder Subdivisions

  • Interstitial Deletion of 4q, Included
  • Proximal Deletion of 4q, Included
  • Terminal Deletion of 4q, Included

General Discussion

Chromosome 4, Monosomy 4q is a chromosomal disorder caused by a partial deletion of the long arm of chromosome 4. The patient may have an extremely prominent forehead (frontal bossing), enlargement of the back part of the head, low placement of ears, short broad hands and feet, unusually small size associated with slow or delayed growth, congenital heart defects, and possible mental retardation.

Symptoms

Patients with Chromosome 4, Monosomy 4q may have the following symptoms: abnormal skull shape, short nose with abnormal bridge, low-set malformed ears, cleft palate, small jaw, short breastbone, poor or delayed growth, moderate to severe mental retardation, heart defects, defective urinary and reproductive organs (genitourinary defects), small size, small hands and feet, unusually wide-set eyes (hypertelorism), a pointed fifth finger and nail which is very characteristic of this disorder, and diminished muscle tone (hypotonia). There may be abnormal brain development (agenesis of corpus callosum). In some cases, delayed growth and mental retardation may be present without obvious physical abnormalities, making it difficult to diagnose this disorder.

Causes

Chromosome 4, Monosomy 4q is caused by a partial deletion of the long arm of chromosome 4. The severity and type of abnormalities depend on the size and location of the missing chromosomal piece. Whether it is interstitial (situated between other parts of the chromosome) or terminal (on the end part of the chromosome) usually determines the symptoms and severity of the disorder.

Affected Populations

Chromosome 4, Monosomy 4q is a rare disorder that is present at birth. It affects males and females in equal numbers.

Related Disorders

Other chromosomal disorders may be similar to Chromosome 4, Monosomy 4q. Comparisons may be useful for a differential diagnosis:

Wolf-Hirschorn Syndrome (4p- Syndrome) is a chromosomal disorder caused by a partial deletion of the short arm of chromosome 4. Major symptoms include extremely wide-set eyes (ocular hypertelorism) with a broad or beaked nose, a small head (microcephaly), low-set malformed ears, mental and growth deficiency, heart (cardiac) defects, and seizures. (For more information on this disorder, choose "Wolf-Hirschorn" as your search term in the Rare Disease Database.)

Chromosome 11, Monosomy 11q is a rare genetic disorder affecting the long arm of chromosome 11. Symptoms may include very widely spaced eyes (hypertelorism), drooping eyelids, abnormally deviated eyes (strabismus), and abnormal positioning of eyes. Symptoms may also include a narrow protruding forehead, broad nasal root, short upturned tip of the nose, a carp-shaped (fish-like) mouth, receding chin, misshapen ears, unusual creases across the palms (simian creases), and mental retardation. (For more information on this disorder, choose "Chromosome 11, Monosomy 11q" as your search term in the Rare Disease Database.)

Greig Cephalopolysyndactyly Syndrome is a rare genetic disorder characterized by an enlarged head, unusual facial features, and multiple physical deformities of the hands and feet. (For more information on this disorder, choose "Greig" as your search term in the Rare Disease Database.)

Chromosomal disorders that involve extra chromosomes (trisomy) may also be similar to Chromosome 4, Monosomy 4q. (For more information on these disorders, choose "Trisomy" as your search term in the Rare Disease Database.)

Down Syndrome is a congenital chromosomal disorder involving three copies of chromosome 21. Hypotonia, small stature with awkward gait, and mental deficiency are major symptoms. There also may be excess skin over the inner corner of the eyes (epicanthic folds), iris deformities, small ears with no lobes, and tooth defects. A small nose, flat face, short neck, small hands and fingers, and unusual creases across the palms (simian creases) may also occur. Heart defects, dry skin, sparse hair, small penis, and infertility are common symptoms. Seizures, protruding eyes, low placement of ears, and undescended testicles are less frequent symptoms. (For more information on this disorder, choose "Down" as your search term in the Rare Disease Database.)

Standard Therapies

For patients of Chromosome 4, Monosomy 4q, special education, physical therapy, and vocational services may be of benefit. Genetic counseling may be of benefit for patients and their families. Other treatment is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Chromosome 4, Monosomy 4q Resources

NORD Member Organizations:

(To become a member of NORD, an organization must meet established criteria and be approved by the NORD Board of Directors. If you're interested in becoming a member, please contact Susan Olivo, Membership Manager, at solivo@rarediseases.org.)

Other Organizations:

References

Interstitial Deletion Of The Long Arm of Chromosome 4 [del(4)(q21.22q23)] and a Liver Tumor. K. Suwa et al., Am J Med Genet. (Jul 1998, 78 (3)). Pp. 291-93.

The 4q-Syndrome: Delineation of the Minimal Critical Region to Within Band 4g31. S. P. Robertson et al., Clin Genet. (Jan 1998, 53 (1)). Pp. 70-3.

Mild Phenotypic Manifestations of Terminal Deletion of the Long Arm of Chromosome 4: Clinical Description of a New Patient. A Caliebe et al., Clin Genet. (Aug 1997, 52 (2)). Pp. 116-19.
Terminal Deletion of the Long Arm of Chromosome 4 in a Mother and Two Sons. M. Descartes et al., Clin Genet. (Dec 1996, 50 (6)). Pp. 538-40.

Brief Clinical Report: Interstitial Deletion of the Long Arm of Chromosome 4, del(4)(q28-->q31.3). S. Copelli et al., (Jan 1995, 55 (1)). pp. 77-9.

Internal Medicine, 2nd Ed.: Jay H. Stein, ed.-in-chief; Little, Brown and Co., 1987. Pp. 1826.

Smith's Recognizable Patterns of Human Malformation. 5th ed., K. L. Jones. W. B. Saunders Company. 1997, Pp. 42-43.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2007/08/07 00:00:00 GMT+0

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