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Unit Code 88540:
Kallmann Syndrome, Xp22.3 Deletion, FISH

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Useful For

Aiding in the diagnosis of Kallmann syndrome, in conjunction

with conventional chromosome studies (#8696 "Chromosome

Analysis, for Congenital Disorders, Blood")

 

Detecting cryptic translocations involving Xp22.3 that are not

demonstrated by conventional chromosome studies

Clinical Information

Kallmann syndrome is associated with a deletion on the short arm

of the X chromosome. The syndrome is an X-linked disease and

can be suspected in patients with complete absence of smell

(anosmia), hypogonadism, and delayed sexual development.

The phenotype may include gynecomastia, bimanual synkinesis

(1 hand copying the movements of the other hand), shortened 4th

metacarpal bone, and absence of a kidney. Kallmann syndrome

affects mainly males, but rare cases of affected females have

been reported.

 

Fluorescence in situ hybridization (FISH) studies are highly specific

and do not exclude other chromosome abnormalities. We recommend

that patients suspected of having Kallmann syndrome also have

conventional chromosome studies (#8696 "Chromosome Analysis,

for Congenital Disorders, Blood") performed to rule out other

chromosome abnormalities or translocations.

Reference Values

An interpretive report will be provided.

Interpretation

Any individual with a normal signal pattern (2 signals in females and

1 signal in males) in each metaphase is considered negative for a

deletion in the region tested by this probe.

 

Any patient with a FISH signal pattern indicating loss of the critical

region on an X chromosome will be reported as having a deletion

of the regions tested by this probe.

Cautions

Because this FISH test is not approved by the Food and Drug

Administration (FDA), it is important to confirm Kallmann syndrome

diagnoses by other established methods, such as clinical history

or physical examination.

Special Instructions and Forms

• Final Disposition of Fetal/Stillborn Remains 
• MayoConnect Additional Test Information 

Clinical Reference

1.    Meitinger T, Heye B, Petit C, et al:  Definitive localization of X-linked

        Kallmann syndrome (hypogonadotropic hypogonadism and anosmia)

        to Xp22.3: close linkage to the hypervariable repeat sequence

        CRI-S232. Am J Hum Genet 1990 Oct;47(4):664-669

 

2.   Weissortel R, Strom TM, Dorr HG, et al:  Analysis of an interstitial

      deletion in a patient with Kallmann syndrome, X-linked ichthyosis

      and mental retardation. Clin Genet 1998 Jul;54(1):45-51

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