Duplication of the short arm of chromosome 3 with
severe delay in mental development, craniofacial dysmorphism, urogenital
maldevelopement, and various occasional anomalies, including cardiac
defects, cleft lip and palate, holoprosencephaly, dermatoglyphic findings,
and other malformations.
Chromosome 3p Duplication Syndrome; 3p+ Syndrome; Partial
Very rare. More than 50% of children die within the
first 2 years of life.
Duplications include dup(3)(pter-p25),
dup(3)(pter-p11), dup(3)(pter-p23), and dup(3)(p25-pter). Most reported
cases have resulted from paternal or maternal balanced translocation.
Head and neck: brachycephaly, holoprosencephaly,
square face with frontal bossing, flat occiput, temporal indentations, facial clefts and
full cheeks. Ears: malformed auricles. Eyes: hypertelorism, iris coloboma,
microphthalmia, cyclopia, down-slanting palpebral fissures. Mouth and nose: large
mouth, cleft lip and palate, short nose with broad and flat bridge, choanal atresia.
Cardiac defects: congenital heart defects including tetralogy of Fallot,
ventricular septal defect, hypoplastic heart, and transposition of the great vessels.
Central nervous system: seizures. Muscles: severe hypotonia. Gastrointestinal:
esophageal atresia, atresia of the colon and rectum. Other features: short stubby
hands and feet, camptodactyly, excessive fingertip whorls are the dermatoglyphic
findings, spinal hemivertebrae, hypogonadism, hypospadias, micropenis, cryptorchidism,
and kidney hypoplasia.
Evaluate cardiac function (clinical,
echocardiography, ECG) and renal function (echography, urea, creatinine,
electrolytes). Seizure medication should be optimized prior to anesthesia
and surgery. Anesthesia consultation should be considered to assess airway
Careful intraoperative positioning
should be done (vertebral anomalies, joint contractures). Direct
laryngoscopy and tracheal intubation has, however, not proven to be
difficult in the few cases reported. The presence of a large mouth and
microstomia seem to facilitate direct laryngoscopy. However, special
attention to the possibility of a challenging direct laryngoscopy and
tracheal intubation should always be a consideration. Implications of
associated cardiovascular congenital anomalies should be treated according
to the clinical presentation. Perimedullar anesthesia is often
contraindicated or difficult because of vertebral and spine anomalies.
Consider anesthetic drug
interactions with antiepileptic medications. Prophylactic antibiotics should
be given as indicated in cases of cardiac defect. Maintaining spontaneous
ventilation during laryngoscopy might be judicious until direct laryngeal
vision is confirmed and tracheal intubation can be performed without
problems. Avoid anesthetic drugs with marked cardiovascular effects.
Allen DL, Foster RN: Anaesthesia and trisomy 3p syndrome [letter].
Anaesth Intensive Care
Kotzot D: De novo direct duplication 3(p25-pter). A previously undescribed
chromosomal aberration. Clin Genet
Walzer S: A new translocation syndrome (3/B). N Engl J Med