CHAPTER 5 Hereditary Influences on Health Promotion of the Child and Family

TABLE 5-2

DISORDER

PARTIAL LIST OF CHROMOSOMAL GENETIC DISORDERS

GENETIC
ETIOLOGY

POSSIBLE
PERIODS OF
RECOGNITION MAJOR FINDINGS

Cri du chat
syndrome

Prenatal to early
ChrDeletion,
childhood
uniparental disomy, or
abnormal methylation
of chromosome 15
Prenatal to
AD or ChrAbnormal
newborn
methylation of
chromosome 11,
uniparental disomy of
paternal chromosome
11, or structural
abnormality in critical
region
Chr46,XX,del(5p) or
Prenatal to
46,XY,del(5p)
newborn

Down syndrome
(trisomy 21)

Chr47,XX,+21 or
47,XY,+21

Prenatal to
newborn

Edwards syndrome Chr47,XX,+18 or

(trisomy 18)
47,XY,+18

Prenatal to
newborn

Klinefelter
syndrome

Chr47,XXY

Patau syndrome
(trisomy 13)

Chr47,XX,+13 or
47,XY,+13

Prenatal;
adolescence to
adulthood
Prenatal to
newborn

Prader-Willi
syndrome

Prenatal; infancy
ChrAbsence of
to early
paternally derived
childhood
region of chromosome
15 or abnormally
methylated critical
region of chromosome
15

Turner syndrome

Chr45,XO

Angelman
syndrome

BeckwithWiedemann
syndrome

85

Prenatal to
adolescence

RESOURCES*

Significant motor, cognitive, and www.geneclinics.org/profiles/angelman/details.html

speech delays; microcephaly; http://ghr.nlm.nih.gov/condition=angelmansyndrome
www.angelman.org
ataxia
Overgrowth syndrome; often
recognized in newborn period
due to abnormally large
tongue; abdominal wall
defects; hypoglycemia in
infancy

www.ncbi.nlm.nih.gov/bookshelf/br.
fcgi?book=gene&part=bws
http://ghr.nlm.nih.gov/condition=
beckwithwiedemannsyndrome
www.beckwith-wiedemann.info

Microcephaly; high-pitched,
catlike cry; significant motor
and cognitive delays
Mild to moderate cognitive
impairment, characteristic
facial features, hypotonia

http://ghr.nlm.nih.gov/condition=criduchatsyndrome
www.fivepminus.org

Multiple congenital anomalies;

significantly shortened life
span; if survival beyond 1 yr,
severe cognitive impairment
Gynecomastia, small testes,
normal sex drive and function
but infertility common
Multiple congenital anomalies;
significantly shortened life
span; if survival beyond 1yr,
severe cognitive impairment
Severe hypotonia, failure to
thrive in early infancy; after
1-2yr of age, excessive
eatingincluding nonfood
items; morbid obesity;
cognitive impairment;
distinctive behavioral
problems; hypogonadism
Lymphedema at birth,
coarctation, short stature,
ovarian dysgenesis, lack of
secondary sex characteristics
during adolescence

http://ghr.nlm.nih.gov/condition=downsyndrome
http://aappolicy.aappublications.org/cgi/content/full/
pediatrics;107/2/442
www.ndss.org
www.nads.org
http://ghr.nlm.nih.gov/condition=trisomy18
www.trisomy18.org

http://ghr.nlm.nih.gov/condition=klinefeltersyndrome

http://ghr.nlm.nih.gov/condition=trisomy13
www.livingwithtrisomy13.org/index.htm

www.ncbi.nlm.nih.gov/bookshelf/br.
fcgi?book=gene&part=pws
http://ghr.nlm.nih.gov/condition=praderwillisyndro
me

http://ghr.nlm.nih.gov/condition=turnersyndrome
http://pediatrics.aappublications.org/cgi/content/
full/111/3/692

AD, Autosomal dominant; Chr, chromosomal.

*Support groups are listed on most websites. However, before referring families to support groups, particularly for families that discovered the
diagnosis prenatally, carefully review the support group and describe its focus to the couple so they can make an informed decision about
whether to visit it.

2. Translocation Down syndromeThe accepted nomenclature for a male with Down syndrome due to robertsonian translocation between acrocentric chromosomes 14
and 21 is 46,XY,t(14;21). Translocation (discussed later)
accounts for approximately 4% of all male and female
Down syndrome cases. The majority of cases are sporadic
(without family history), but about 25% have one balanced translocation carrier parent. When one such carrier
and a partner with normal chromosomes reproduce,
their theoretical chances of producing a live-born child

with Down syndrome are 33%, but the actual observed

risk is approximately 15% if the mother is the carrier and
less than 10% if the father is the carrier. The observed
chance of producing a live-born child who is a balanced
translocation carrier approaches 50%. Because chromosome 21 is an acrocentric chromosome, it is possible for
the translocation to be with both chromosome 21s. A
carrier mother [45,XX,t(21;21)] or father [45,XY,t(21;21)]
of the translocation would have a 100% chance of producing a child with Down syndrome, since the other