Duplication of the long arm of chromosome 11 provides
multiple malformations of which variability is related to the size of
duplication. Clinically characterized at birth or later by the association
of delayed growth and mental development, craniofacial anomalies,
musculoskeletal abnormalities, imperforate anus, cryptorchidism, and
congenital heart defects.
11q+ Syndrome; 11q Duplication Syndrome; Chromosome 11q
Malformations can concern head (microcephaly,
anencephaly, craniorachischisis, and microretrognathia; dysplastic ears and
preauricular tags; nystagmus, strabismus, hypertelorism and down-slanting
palpebral fissures; short, flat, or broad nose, short septum, long philtrum
and epicanthal folds; highly arched palate, cleft palate, cleft lip,
macroglossia and retracted lower lip; short neck), abdomen and pelvis (abdominal muscle
defects, exomphalos, inguinal hernia, imperforate anus, hypoplasia of
gallbladder, absent kidneys, bicornis uterus, micropenis, cryptorchidism,
and hypoplastic scrotum), nervous system (neonatal hypertonia and postnatal hypotonia,
seizures, arhinencephaly, agenesis of corpus callosum, and hypoplasia of
cerebellar vermis), and skeleton (bipartite clavicles, dysplastic and dislocated
hips, radioulnar synostosis, clubfoot, and absent thumbs). Congenital heart
defects can include ventricular septal defect and abnormal lung lobation.
Some patients exhibit symptoms of Cri-Du-Chat Syndrome.
Evaluate cardiac function (clinical,
echocardiography, ECG), renal function (echography, CT, urea, creatinine,
electrolytes), and neurological function (clinical, CT scan, MRI, EEG).
Direct laryngoscopy and tracheal intubation can
be difficult because of malformations and may necessitate to preserve spontaneous
ventilation until the trachea is intubated and lung ventilation confirmed. The use of
fiberoptic technique, or retrograde approach should be considered. The availability of a laryngeal
mask airway is highly recommended. Careful intraoperative positioning is needed but can
be difficult because of hip dislocation. Subclavian central venous access can be
delicate because of clavicle malformations.
Prophylactic antibiotics should be
used in case of cardiac defect as indicated. Avoid nephrotoxic drugs in case
of renal failure. Consider interaction between anesthetic drugs and
Characteristics of trisomy 11 in childhood acute leukemia with review of
the literature. Leukemia 3(10):695-8, 1989.
Noir A, Leroux M, Bresson JL, et al: 11q Trisomy: Apropos of 2 cases.
Pediatrie 42(6):441, 1987.