Chromosome 3 duplication disorders?

Question

I am 6 months pregnant and found out that my daughter has a duplication on the tip of her 3rd chromosome, which has already caused a very severe heart defect called Ebstein's Anomaly. Does anyone have any information about disorders related to this?

Answer 1

Syndrome chromosome 3p duplication syndrome
Synonyms 3p+ syndrome
3p duplication syndrome
chromosome 3p trisomy
dup(3p) syndrome
duplication 3p syndrome
partial trisomy 3p
trisomy 3p
Summary Duplication of the short arm of chromosome 3 with severe delay in mental development, craniofacial dysmorphism, urogenital maldevelopment, and various occasional anomalies, including cardiac defects, cleft lip and palate, holoprosencephaly, dermatoglyphic findings, and other malformations.
Major Features Head and neck: Brachycephaly, holoprosencephaly, square face, frontal bossing, flat occiput, temporal indentations, micrognathia, facial clefts, and full cheeks.
Ears: Malformed auricles.
Eyes: Hypertelorism, iris coloboma, microphthalmia, telecanthus, bushy eyebrows, downslanting palpebral fissures, and cyclopia.
Nose: Short nose with broad and flat nose, prominent filtrum, choanal atresia, and epicanthal folds.
Mouth and oral structures: Large mouth, short upper lips, and cleft lip and palate.
Neck: Short neck.
Thorax: Accessory nipples.
Hand and foot: Short stubby hands and feet, camptodactyly, syndactyly, brachymesophalangy, and clubfoot. Excessive fingertip whorls are the dermatoglyphic findings.
Extremities: Joint contractures,
Spine: Hemivertebrae.
Muscles: Hypotonia.
Nervous system: Seizures.
Cardiovascular system: Congenital heart defects.
Gastrointestinal system: Esophageal atresia, common mesentery, and atresia of colon and rectum.
Urogenital system: Hypogonadism, hypospadias, micropenis, cryptorchidism, duplication of ureters, and kidney hypoplasia and cysts.
Biochemical and metabolic features: Hypercholesterolemia.
Temporal features: Nearly half of the affected infants die within the first 2 years of life.
Growth and development: Growth, motor, speech, and mental retardation.
Behavior and performance: Feeding difficulty.
Heredity: Duplications include dup(3)(pter-p25), dup(3)(pter-q11), dup(3)(pter-p23), and dup(3)(p25-pter). Most reported cases have resulted from paternal or maternal balanced translocation.

Answer 2

It is a heart defect in which the tricuspid valve is abnormally formed. The tricuspid valve normally has three "flaps" or leaflets. In Ebstein's anomaly, one or two of the three leaflets are stuck to the wall of the heart and don't move normally. Sorry to hearthat about your daughter

Answer 3

http://www.answers.com/Ebstein's%20Anomaly
check this site it will answer your question
if you have other questions
contact me
[e-mail]