ultrasound diagnosis of fatal anomalies

PALLISTER–KILLIAN SYNDROME
Jacobsen Syndrome (11 q Deletion)
Definition : This is a structural chromosomal
anomaly with a deletion, of varying size, of the
distal long arm of chromosome 11. It is associated
with multiple congenital malformations
and mental retardation.
First described in 1973.
chromosome 11, including deletions, duplications
and translocations. Networking of families,
researchers and organizations. Newsletter,
conferences, books, videos.
Scope: Online
Etiology: Deletion of the long arm of chromosome
11, as a new mutation or due to balanced
translocation in one of the parents.
Ultrasound findings: Intrauterine growth restriction,
trigonocephaly, microcephaly, dilation
of ventricles, holoprosencephaly, hypertelorism,
micrognathia, ear anomaly, cardiac and renal
anomalies, anomalies of the genitals, clinodactyly,
joint contractures.
Differential diagnosis: Trisomy 13, trisomy 18,
craniostenosis, spina bifida.
Prognosis: This depends on the severity of the
cardiac anomaly. Survivors suffer moderate to
severe mental impairment.
Self-Help Organization
Title: 11 q Research and Resource Group
Description: Mutual support for families of
children with structural abnormalities of
Pallister–Killian Syndrome (Tetrasomy 12 p)
Definition: This is a severe chromosomal disorder,
clinically characterized by a severe
decrease in muscle tension, severe mental retardation
and other anomalies. Mosaic with tetrasomy
12 p.
Incidence: Rare condition; only 50 cases have
been described.
Etiology: Sporadic occurrence. Chromosomal
mosaic is difficult to detect in the lymphocytes,
but not in fibroblasts and amniotic cells. It correlates
with advanced maternal age.
Address: Melanie 11q Research and Resource
Group, 6123 A Duncan Rd., Petersberg, VA
23803, United States
Web: http://www.11q.net
References
Fernandez Gonzalez N, Prieto Espunes S, Ibanez Fernandez
A, Fernandez Colomer B, Lopez Sastre J, Fernandez
Toral J. [Deletion 11q23qter (Jacobsen Syndrome)associated
with duodenal atresia and annular
pancreas; in Spanish.] An Esp Pediatr 2002; 57:
249–52.
Chen CP, Chern SR, Tzen CY, et al. Prenatal diagnosis of
de novo distal 11q deletion associated with sonographic
findings of unilateral duplex renal system,
pyelectasis and orofacial clefts. Prenat Diagn 2001;
21: 317–20.
Chen CP, Liu FF, Jan SW, Chen CP, Lan CC. Partial duplication
of 3q and distal deletion of 11q in a stillbirth
with an omphalocele containing the liver, short
limbs, and intrauterine growth retardation. J Med
Genet 1996; 33: 615–7.
Ultrasound findings: Growth restriction, hydramnios,
singular umbilical artery and microcephaly
are possible findings. Cerebellar hypoplasia,
hydrocephalus, craniofacial anomalies
such as large forehead, coarse facial features, hypertelorism,
ear dysplasia, macrostomia, and
elevated palate may also be present. Cardiac
anomalies such as VSD, aortic isthmus stenosis,
PDA, ASD, and others occur in 25% of cases. Diaphragmatic
hernia is seen in 50% of cases, and
anal atresia may also be seen. Other anomalies
include renal and genital malformations. Extremities
may also be involved: shortening of the
bones, small, stubby hands and feet, doubling of
the big toes. Skin disorders, alopecia and skin
pigmentation may also be seen.
3
179