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This section of our site is to offer you
a study guide to cytogenetic disorders and interesting cases. If you prefer
to use it to seek information, you may do so by clicking on the index
of cases. This site will continue to build by adding new cases starting
with the more common findings and progressing to more challenging cases.
An index
is available for those wishing to review the common cytogenetic syndromes
or cancer abnormalities.
Unknown:
Case 1
This newborn child is seen in the neonatal ICU. On physical examination
the child has microophthalmia, cleft lip and palate, posterior scalp defects,
polydactyly of the hands, and a Simian crease. The child weighed 2600
g at birth; only a single umbilical artery was present. Additional testing
revealed holoprosencephaly, a horseshoe kidney and a ventricular septal
defect. A chromosome analysis is ordered.
View Metaphase - 8/15/01
Case 2
This newborn child is seen in the neonatal ICU. On physical examination
the child has microcephaly, a prominent occiput, microophthalmia, clenched
hands with overlapping fingers, and an inguinal hernia. The child weighed
2400 g at birth. Additional testing revealed a ventricular septal defect.
A chromosome analysis is ordered.
View Metaphase - 8/15/01
Case 3
This newborn child is seen in the neonatal ICU. On physical examination
the child has brachycephaly with a flat occiput, upslanting palpebral
fissures, hypotonia, speckled irises (Brushfield spots), small low-set
ears, a wide gap between the first and second toes, loose skin, and a
Simian crease. The child weighed 2700 g at birth. Additional testing revealed
a ventricular septal defect. A chromosome analysis is ordered.
View Metaphase- 8/15/01
Case 4
This newborn child looks similar to unknown A1. The child's mother has
two normal children and a history of multiple miscarriages. Chromosome
studies were obtained on this child and her parents.
View Mom's Metaphase - View
Child's Metaphase- 8/15/01
Case 5
This 30 year old male and his 30 year old wife present at an infertility
clinic with a history of two years of infertility. The male is 6'3"
tall and appears to have long limbs. On physical examination he has very
small testicles, a small penis, and little pubic, axillary and facial
hair. He has a college degree and works as a manager of a retail store.
He appears to be of normal intelligence. His wife is a professional and
has a normal physical examination. A chromosome analysis is ordered.
View Metaphase- 8/15/01
Case 6
This six year old male had been seen by his pediatrician and had a normal
peripheral blood chromosome study. He was referred to a genetics clinic
for further evaluation. On clinical examination, the child had a prominent
forehead, deep-set eyes, strabismus, hypertelorism, prominent ears, thick
lips, micrognathia, a high arched palate, camptodactyly, deep creases
of the palms and soles, a long and slender trunk, and widely spaced nipples.
The child was moderately to severely mentally retarded. A chromosome analysis
on skin fibroblasts was ordered.
View Metaphases- 8/15/01
Case 7
This newborn child looks similar to the newborn child in unknown 3. The
child's mother has a history of multiple miscarriages.
View Metaphase- 8/15/01
Case 8
This 10-year old female presents to her pediatrician for a camp physical.
No abnormalities are found on physical examination. However, the girl's
occipitofrontal head circumference is around the 30th percentile, while
her height is at the 80th percentile. The pediatrician asks how the daughter
has been doing in school. The girl says "ok". The mother states
that her daughter has not been doing well on her spelling tests and is
a poor reader. Additional questioning reveals that the girl doesn't have
very many friends and sometimes seems "depressed". A chromosome
analysis is ordered.
View Metaphase- 8/15/01
Case 9
This 11-year old male presents to his family practice doctor with a sore
throat. After having a throat culture done, the boy's mother tells the
doctor that she is worried about her son because he is not doing well
in school. The mother states that he has always been a "little behind"
in subjects requiring language skills. In addition, his teachers have
complained that he is often inattentive and hyperactive. No abnormalities
are found on physical examination. However, the boys height is at the
85th percentile and his weight is at the 45th percentile. The astute physician
sends a sodium heparin tube of blood for chromosome analysis.
View Metaphase- 8/15/01
CA 1
This 50 year old female presents with complaints of increasing fatigue,
weight loss, and headaches. A physical examination reveals splenomegaly.
A CBC is performed and reveals a moderate normochromic, normocytic anemia,
a mild thrombocytosis, and a marked leukocytosis. The leukocytosis consists
predominantly of granulocytes in all stages of maturation. There are 1%
circulating blasts. An absolute basophilia and absolute eosinophilia are
also present. A bone marrow biopsy and aspirate are performed and aspirate
is sent for cytogenetic analysis.
View Metaphase- 8/15/01
CA2
This 48 year old male was diagnosed with chronic myelogenous leukemia
(CML) 4 years ago. He presents to clinic because of a two day history
of fever; physical examination reveals a marked splenomegaly. A CBC is
performed and reveals a decrease in this patient's baseline hemoglobin
level, moderate thrombocytopenia, and moderate leukocytosis with 40% blasts.
A bone marrow biopsy and aspirate are performed and aspirate is sent for
cytogenetic analysis.
View Metaphase- 8/15/01
CA3
This 60 year old male presents with complaints of fatigue, fever, ecchymoses,
and gingival bleeding. A CBC is performed and reveals a moderate anemia,
a marked thrombocytopenia, and a moderate leukocytosis with 80% circulating
blasts. The blasts contain numerous azurophilic granules; many of the
blasts contain one or several Auer rods. A bone marrow biopsy and aspirate
are performed and aspirate is sent for cytogenetic analysis.
View Metaphase- 8/15/01
CA4
This 38 year old female presents with fatigue, headache, petechiae, epistaxis,
and hemoptysis. A CBC is performed and reveals a moderate anemia, moderate
thrombocytopenia and mild leukopenia with rare promyelocytes. Coagulation
studies show evidence of disseminated intravascular coagulation. A bone
marrow biopsy and aspirate are performed and aspirate is sent for cytogenetic
analysis.
View Metaphase- 8/15/01
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