Skip to Main Content

++

Partial Trisomy 6q is extremely rare. Many affected infants and children have growth retardation, mental retardation, craniofacial anomalies, a short, webbed neck, and joint contractures.

++

Chromosome 6, Trisomy 6q2; Distal Trisomy 6q; Duplication 6q; Partial Distal Duplication 6q.

++

Extremely rare. Appears to affect males and females equally. Approximately 30 cases have been reported in the medical literature.

++

Chromosome 6, partial trisomy 6q is the result of a balanced translocation in one of the parents. The duplicated portion of 6q2 begins between bands 6q21 and 6q26 and may extend to the end (or “terminal”) of chromosome 6q (qter).

++

Craniofacial abnormalities include microcephaly, an abnormally flat face and occiput, an “almond-shaped,” protruding, ocular hypertelorism, and/or downwardly slanting palpebral fissures. Affected individuals may also have a small “bow-shaped” mouth with thin lips, micrognathia, cleft palate, a large, flat nose, malformed ears, and/or thin, arched eyebrows. In some cases, the coronal and sagittal craniosynostosis causing turricephaly has been reported. The neck may be unusually short and wide with abnormal frontolateral webbing, potentially restricting movement of the jaw and neck. The hairline may be abnormally low on the back of the neck (nape). Joint contractures (fingers, wrists, elbows, knees, hips), causing limitation of movement and abnormal postures, are often associated. Polysyndactyly, clubhands and/or clubfeet, scoliosis, reduced diameter of the chest, and widely spaced nipples. Genital abnormalities include, in affected females, hypoplastic labia, and in affected males, micropenis, hypospadias, and cryptorchidism. It may also include cardiac, intestinal, renal, and cerebral abnormalities.

++

Evaluate cardiac function (clinical, echocardiography, ECG) and renal function (echography, urea, creatinine, electrolytes). Anesthesia consultation is indicated to assess the airway and other medical conditions (especially cardiac).

++

Careful intraoperative positioning should be done (vertebral anomalies, joint contractures). Direct laryngoscopy and tracheal intubation will be difficult because of short and webbed neck, the presence of micrognathia, a small mouth opening, and retrognathia. Spontaneous respiration must be maintained until the trachea is intubated and lung ventilation confirmed. Venous access can be difficult because of limb anomalies. Perimedullar anesthesia is often contraindicated or difficult because of vertebral and spine anomalies.

++

Prophylactic antibiotics should be as indicated in cases of cardiac defect. Preserve spontaneous ventilation before and during laryngoscopy until tracheal intubation is secured. Avoid anesthetic drugs with marked cardiovascular effects.

Conrad BA, Higgins RR, Pierpont MEM: Duplication 6q22 → qter: Definition of the phenotype. Am J Med Genet 78:123, 1998.  [PubMed: 9674901]
Dellacasa P: Partial trisomy of the long arm of chromosome 6. A clinical case. Minerva Pediatr 45:517, 1993.  [PubMed: 8145689]
Erdel M, Duba HC, Verdorfer I, et al: Comparative genomic hybridization reveals a partial de novo trisomy 6q23-qter in an infant with congenital malformations: Delineation of the phenotype. Hum Genet 99:596, 1997.  [PubMed: 9150724]

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.